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PubMed1994

Implications of maternal serum alpha-fetoprotein elevation caused by transabdominal and transcervical CVS.

Of 2882 women allocated to either transabdominal CVS (TA) or transcervical CVS (TC) at two large obstetric centres in Denmark, 2707 had blood samples drawn before and 30 min after CVS for maternal serum-alpha-fetoprotein (MSAFP) measurement. 2535 of these women had cytogenetically normal pregnancies and 2091 of them went on to have samples drawn at the 18-20 week follow-up. Post-procedure MSAFP values were correlated to the biopsy method used, with mean MSAFP values significantly higher after TA than TC, 33 and 15 kU/l, respectively (P < 0.001). Following TA procedures, 18 per cent of cases had feto-maternal transfusion higher than 0.1 ml; this occurred in only 5 per cent of TC cases. MSAFP levels were associated with spontaneous fetal loss in the TA group but not in the TC group. TC, however, was followed by more losses than TA. The post-CVS MSAFP value was positively correlated with the amount of villi aspirated. The difference in post-procedure elevation in MSAFP 30 min later (average 18 kU/l higher for TA than for TC) was not reflected in raised levels at the 18-20 week follow-up. Study medians at mid-trimester did not differ from reference group medians established from a group of singleton pregnancies with sonographically determined gestational age who did not experience invasive procedures and delivered normal infants. Our findings suggest that CVS does not compromise mid-trimester MSAFP for screening for neural tube defects (NTDs). Extremely high mid-trimester MSAFP values in the TC group could predict imminent loss.

Abdomen↗
PubMed2005

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

BACKGROUND: Spinal muscular atrophy (SMA) is a recessive neurodegenerative disorder characterized by the loss of alpha-motor neurons in the spinal cord and subsequent death of motor neuron cells. SMA occurs with a frequency of 1 in 6,000 live births, with a carrier frequency of 1 in 40, and is a leading genetic cause of infant mortality. SMA is caused by loss or mutation of the telomeric survival motor neuron gene (SMN1), which is deleted in almost 94% of SMA patients OBJECTIVE: To analyze the transmission ratio at the SMA locus, examining the segregation of the SMN1-deleted alleles in 314 fetuses from carrier parents who requested prenatal testing for the disease. METHODS: Prenatal diagnosis of SMA in families at 25% risk of the disease has been performed on chorionic villous sampling specimens, through direct detection of the SMN1 gene mutation and linkage analysis using microsatellite markers from the 5q13 region. Analysis of the genotypic/allelic frequencies of the SMN1 gene was performed using the chi2 test, assuming a recessive mendelian inheritance. RESULTS: Of 314 fetuses analyzed, 95 were homozygous for the wild-type allele (30.3%), 154 were carriers (49.0%), and the remaining 65 were homozygous for the mutated allele (20.7%). Statistical analysis demonstrated that proportion of fetuses predicted with SMA is lower than 25% expected for a recessive disorder, resulting in a transmission rate of the SMN1-deleted allele deviant from the 50% expected in a random the segregation of a mendelian tract (p = 0.016) CONCLUSIONS: This is the first study to evaluate the genotypic frequencies at the spinal muscular atrophy (SMA) locus based on data derived from prenatal analysis, which are not subject to ascertainment bias. The analysis showed a transmission ratio distortion at the SMA locus in favor of the SMN1 wild-type alleles.

Chorionic Villi Sampling↗
PubMed2002

Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.

Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl-CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient from each family was diagnosed postnatally due to macrocephaly and neurological deterioration at 4 months and 10 months, respectively. The third child, sister of the first patient, was diagnosed prenatally at 11 weeks' gestation through chorionic villus sampling (CVS). Molecular analysis revealed that the fetus and child in Family 1 were homozygous for a common mutation, IVS10 -2A>C, which has not been reported in the Caucasian population. The patient in Family 2 was a compound heterozygote for IVS10 -2A>C and a novel mutation 749T>C (L238P). After genetic counseling, the couple decided to continue the second pregnancy. However, dilatation of quadrigeminal cistern (QC) and suspicious macrocephaly were noted at 30 weeks. Progressive dilatation of the QC associated with macrocephaly, fronto-temporal atrophy and wide space of perisylvian fissure were found in the follow-up scans. The affected girl was delivered at 37 weeks' gestation by cesarean section. Postnatal magnetic resonance imaging (MRI) studies confirmed the prenatal sonographic findings. With prenatal sonographic findings and mutational analysis presented in the present cases, the feasibility of prenatal diagnosis of GA I in high-risk pregnancy can not be overlooked.

Adult↗
PubMed2004

First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign.

OBJECTIVE: To study the value of choroid plexus dysmorphology as a screening tool for the first-trimester sonographic diagnosis of holoprosencephaly in a high-risk population. METHODS: A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks' gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). A cross-sectional view of the fetal brain, including the visualization of both choroid plexuses (the "butterfly" sign), was obtained in all cases. RESULTS: There were 3 cases in which the butterfly sign was not identified. In these cases, the first-trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. Two of these fetuses had features of facial dysmorphism at the time of presentation and 2 had extracranial anomalies, including a cystic hygroma in 1 and a small omphalocele and polydactyly in another. Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. CONCLUSIONS: This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly.

Abnormalities, Multiple↗
PubMed2007

Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available.

OBJECTIVE: To learn about parental decisions to abort or continue a pregnancy after prenatal diagnosis of chromosomal abnormalities among the population in Uruguay. METHODS: Between 1982 and 2003, 14 656 amniocentesis and 2740 chorionic villus samplings were performed in a referral Genetic Unit. Chromosomal anomalies were found in 376 cases (2.16%) and included Down syndrome, aneuploidies in which a severe prognosis was expected, sex chromosome aneuploidy and aneuploidies with a low risk of an abnormal clinical phenotype. The couples that received abnormal results were contacted by phone and asked if they had continued or interrupted the pregnancy after the diagnosis and genetic counseling. RESULTS: We contacted 207 couples (55%). When confronted with Down syndrome or an aneuploidy in which a severe prognosis was expected, 89% and 96% of patients, respectively, decided to terminate the pregnancy. When confronted with sex chromosome aneuploidy or aneuploidies with a low risk of an abnormal clinical phenotype, 79% and 90% of patients, respectively, decided to continue the pregnancy. CONCLUSIONS: The present study shows that when faced with an anomaly such as Down syndrome and aneuploidies in which a severe prognosis was expected, most of the couples decided to terminate the pregnancy, although TOP is not legally available in Uruguay.

Abortion, Illegal↗
PubMed1993

Prenatal diagnosis of ornithine transcarbamylase deficiency: results in Spfash mice.

Ornithine transcarbamylase (OTC) deficiency is a human X-chromosome-linked disease (McKusick 31125). The presence of OTC activity in the human placenta encouraged us to examine the possible diagnosis of the disease in an animal model (Spfash mice) by enzymatic assay on placental samples. A significant positive correlation (p < 0.02) was found between placental and hepatic activities; the pH dependence of OTC was similar in the placenta and liver when compared within normal or homozygous mutant mice. The apparent Km (ornithine) and Km (carbamoylphosphate) values of the enzyme did not show any significant differences when compared in both placentae and livers of normal fetuses. The use of OTC assay in the placenta for prenatal diagnosis of OTC deficiency in mouse fetuses obtained by the crossbreeding of Spfash/+ with +/Y has shown that our method has good diagnostic value. We made the diagnosis of OTC deficiency in male fetuses with a sensitivity and a specificity of 1.0. The + gene from the father in Spfash/+ animals is preferentially inactivated in extraembryonic tissues, explaining why very low placental OTC activity was observed in 12 of the 18 female fetuses studied. Because these 12 females have variable OTC activity in their livers, it is not possible to appreciate the true residual activity in their livers by measuring this activity in the placenta.

Amino Acid Metabolism, Inborn Errors↗
PubMed2001

Fetal nucleated red blood cells from CVS washings: an aid to development of first trimester non-invasive prenatal diagnosis.

Fetal nucleated red blood cells (n-rbc) occur in the maternal circulation from 7 weeks of pregnancy. The enrichment of these cells from maternal blood will depend upon their stage of differentiation, which changes during development. We characterised the fetal n-rbc from chorionic villus sample (CVS) washings and used them to model first trimester non-invasive prenatal diagnosis. The ratio of epsilon- to gamma-globin-producing cells declined rapidly from 10 to 13 weeks, as did the ratio of nucleated to non-nucleated rbc. By 13 weeks the great majority of cells containing gamma- or epsilon-globin are anucleate. The fetal n-rbc were highly variable in size and density and sedimented over a wide density range with a high proportion (>80%) at a density overlapping with that of maternal rbc. We have devised an enrichment procedure using Orskoff lysis to differentially lyse the maternal cells followed by density centrifugation and separation using magnetic beads. This simple protocol allowed recovery of 70% (69+/-22%) of fetal cells when added at approximately 10 fetal cells/ml maternal blood. When 1 fetal cell/ml millilitre maternal blood was added (total volume 10 ml) the recovery was more variable but remained at approximately 70% (72+/-47%), with at least one fetal cell recovered in all cases.

Cell Nucleus↗
PubMed2003

Rapid prenatal diagnosis in translocation carriers by interphase FISH with chromosome-specific subtelomere probes.

Interphase fluorescence in situ hybridization (FISH) analysis can provide rapid preliminary analysis of chromosome aneuploidy from direct amniocyte and chorionic villus sample (CVS) preparations. Typically, interphase FISH is used in screening for numerical abnormalities of chromosomes X, Y, 13, 18, and 21. More recently, FISH probe sets became available for the subtelomeric region of each chromosome, allowing screening for terminal chromosome rearrangements. The purpose of the current study was to evaluate the use of dual-color interphase FISH analysis with chromosome-specific subtelomere probes for rapid prenatal diagnosis in 14 pregnancies from 12 different translocation carriers. Interphase FISH analysis was performed on direct CVS or amniocyte preparations from 12 reciprocal translocation and two Robertsonian translocation pregnancies with the appropriate chromosome-specific subtelomere probes for each chromosome involved in the translocation. Analysis of the interphase FISH probe signals predicted balanced or normal segregants in each case, thus rapidly excluding a chromosomally unbalanced segregant. Subsequent metaphase analysis showed normal karyotypes in seven fetuses and balanced translocations in the remaining seven. This series illustrates the utility of interphase FISH analysis with chromosome-specific subtelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocations and Robertsonian translocations.

Amniocentesis↗
PubMed2003

A reappraisal of the contrasting morphological appearances of villous cytotrophoblast cells during early human pregnancy; evidence for both apoptosis and primary necrosis.

Villous cytotrophoblast cells display a range of morphological appearances that are assumed to reflect different stages of differentiation. Here we demonstrate that apoptosis and primary necrosis can also occur in these cells during normal early pregnancy, and should be included in the list of possible phenotypes. Samples from 30 placentae of 6-15 weeks gestational age were examined. Cytotrophoblast cells displaying highly condensed chromatin, but no karyorhexis, were observed detached from the basement membrane, and represented 0.49% (s.d.+/-0.36) of the total population. Their cytoplasm was heavily vacuolated, and their mitochondria swollen, indicating secondary necrosis. By contrast, extremely pale-staining cells with large rounded nuclei (volume-weighted mean volume 471.6 microm(3) compared to 250.1 microm(3) for euchromatic cells) were frequently observed (5.97% of total, s.d.+/-4.31). These cells displayed loss of euchromatin, a paucity of cytoplasmic organelles, and swelling of the mitochondrial intracristal space and endoplasmic reticulum. Nuclei of these cells displayed a significantly higher level of gold labelling using the TUNEL technique compared to euchromatic nuclei [1.0 particles/microm(2) (s.d.+/-0.13) vs 0.12 particles/microm(2) (s.d.+/-0.03),P< 0.05], confirming increased DNA fragmentation. We conclude that these cells are undergoing primary necrosis. The stimulus for both forms of cell death remains unknown, but may be associated with syncytiotrophoblastic stress.

Adult↗
PubMed2002

Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis.

We present six cases of 47,+i(5p)/46 mosaicism diagnosed at chorionic villus sampling (CVS), this being the first prospective series to be reported. The clinical indication in each was advanced maternal age. Further prenatal studies in four (amniocentesis, plus fetal blood sampling in one) did not show the isochromosome. In one case, subsequent amniocentesis showed 1/48 in situ colonies with the isochromosome, but fetal blood was karyotypically normal. These five pregnancies resulted in phenotypically normal livebirths; further normal follow-up reports (from age 4 months through 4 years) are noted in four of these. Analysis of placental tissue in one case confirmed the presence of the i(5p) mosaicism. In the remaining case, in which 100% of CVS cultured cells had the i(5p), the pregnancy was terminated. Fetal skin fibroblasts did not show the i(5p). Thus, in none of these six cases was true fetal mosaicism detected, nor an abnormal phenotype noted. We suggest that a 47,+i(5p)/46 karyotype, detected at CVS, may frequently reflect confined placental mosaicism. In addition, we report a case of the primary diagnosis of 47,+i(5p)/46 mosaicism at amniocentesis. The infant appeared normal at birth, but a brain malformation was subsequently identified.

Adult↗
PubMed1993

Terminal transverse limb defects and early chorionic villus sampling: evaluation of 4,300 cases with completed follow-up.

Data from 4,300 consecutive cases following prenatal diagnosis by transcervical (TC) CVS (n = 1,570) and transabdominal (TA) CVS (n = 2,370) were evaluated. In the follow-up study only infants examined by a physician were included. Gestational age varied between 8.5 and 11.6 weeks (mean 10.3 weeks) for TC-CVS and between 9.3 and 20 weeks (mean 12.3 weeks) for TA-CVS 98% of TC-CVS was performed at 9-10 weeks, 80.7% of TA-CVS procedures were carried out at 12-15 weeks. Selective termination took place in 97 cases of TC-CVS (6.1%) and in 72 cases of TA-CVS (2.6%). Another 8 women had a termination for psychosocial reasons, resulting in 4,123 (1,469 TC, 2,654 TA) continuing pregnancies. The overall fetal loss rate < 28 weeks was 5.4% (n = 80) for TC-CVS and 2.6% (n = 70) for TA-CVS. The overall incidence of congenital abnormalities after birth was 0.9%. Two terminal transversal limb defects were detected in the TC-CVS group (0.14%) against one (0.04%) in the TA-CVS group.

Chorionic Villi Sampling↗
PubMed2002

Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases.

OBJECTIVES: Prenatal diagnosis in families affected by X-linked recessive disorders should ideally be limited to the subjects at increased risk, i.e. male fetuses, in order to avoid the risk of fetal loss due to the invasive procedure in healthy female fetuses. The aim of the study was to assess the fetal sex within the first trimester of gestation by two non-invasive approaches, using ultrasonography and a molecular analysis of fetal DNA extracted from whole maternal blood with specific markers, in order to avoid invasive sampling in female fetuses. METHODS: A total number of 18 fetuses at risk for an X-linked recessive disease were included in the present investigation. Maternal peripheral blood was analysed between 7 and 12 weeks of gestation by nested PCR for the detection of fetal DNA and the prediction of fetal gender. In addition, when the biparietal diameter (BPD) was between 21 and 23 mm, an ultrasonographic examination was carried out to assess the fetal gender. CVS was then performed in male fetuses only. RESULTS: Fetal gender was correctly assigned by ultrasonography between 21 and 23 mm of BPD in all the cases studied, whereas DNA extracted from whole maternal blood accurately predicted the gender in all the female cases (10), but failed in 4 out of 8 male fetuses, erroneously assigned as females. CONCLUSION: The present study shows that sonography is able to accurately predict the fetal gender within the first trimester of pregnancy, whereas the molecular analysis of DNA extracted from whole maternal blood is biased by false-Y-negative results in 50% of the cases.

Chorionic Villi Sampling↗
PubMed2000

Human papillomavirus in the cervix and placenta.

OBJECTIVE: To determine the prevalence and association of human papillomavirus (HPV) infection in the cervices and placentas of pregnant women. METHODS: Cervical samples were taken from 179 of 226 women who had placental biopsies because of abnormal ultrasound findings or were older than 35 years, to detect HPV infections with hybrid capture II tests. Polymerase chain reaction (PCR) was done on placental tissue of 147 of the 226 women to detect HPV DNA. RESULTS: We found 44 of 179 women (24.6%, 95% confidence interval 18.3, 31.0) to test positive for HPV in their cervices. Logistic regression analyses showed decreased prevalence of HPV infection with increased maternal age (P =.039). The HPV DNA E6 PCR from the villus tissue was negative in the 147 cases examined. However, a significant contingency coefficient between low-risk HPV infection and elevated risk of chromosome aberration was found (&phi; = V = 0.15, P =.050). CONCLUSION: The infection rate of 24.6% in women without clinical symptoms of HPV infection was high, but there seemed to be no virus transmission to the placenta in women with subclinical infections. Low-risk cervical HPV infection might be associated with a slightly higher risk of abnormal fetal karyotype.

Adult↗
PubMed1993

Preimplantation diagnosis or chorionic villus biopsy? Women's attitudes and preferences.

The objective of this work was to assess women's attitudes and preferences to two methods of prenatal diagnosis for genetic disease: embryo and chorionic villus biopsy (CVS). The design involved a structured postal questionnaire sent to women in the Grampian region with different reproductive experiences. The population sample included 46 women who had had genetic counselling because of a family history of a single gene disorder, 18 women who had had CVS for a single gene disorder, 158 women who had had CVS for other reasons, 200 women who had recently delivered a normal baby and 50 women who had experience of in-vitro fertilization (IVF). The main outcome measures were attitudes to family limitation, prenatal diagnosis, termination for fetal abnormality, embryo biopsy and CVS. Of the women surveyed, 38% preferred embryo diagnosis, whereas 42% favoured CVS and termination. Women with previous experience of CVS preferred this option whereas those with experience of IVF as infertility treatment were more likely to favour embryo diagnosis, as were women who had had genetic counselling for a single gene disorder. It was concluded that a substantial number of women find embryo diagnosis more acceptable than CVS when the pregnancy is at high risk. This is especially true amongst those with experience of IVF or who are at risk themselves. A demand for embryo diagnosis has been demonstrated.

Adolescent↗
PubMed1994

Multiple pregnancy induction and selective fetal reduction in high genetic risk couples.

Couples at risk for an inherited disorder often have several pregnancy interruptions because of affected fetuses and difficulty in achieving their desired family. We evaluated the efficiency and acceptability of selective fetal reduction after chorionic villus sampling (CVS) of multiple pregnancy induced by ovarian stimulation and gamete intra-Fallopian transfer (GIFT). This approach has been offered to nine patients at risk of Mendelian diseases and one patient carrier of reciprocal translocation. The acceptance has been very high (90%). One patient at risk of an autosomic recessive disease opted for artificial donor insemination, one conceived spontaneously, and one was a poor responder to ovarian stimulation. Seven patients actually underwent a single GIFT procedure with six achieving pregnancy (86%), all but two being a multiple pregnancy (67%). All pregnancies concluded uneventfully at term and newborns were alive and healthy. Prenatal diagnosis, including fetal karyotyping in all cases, was performed at 8.5-11.5 weeks of gestation and confirmed either on amniotic fluid aspirated at reduction or at birth. The number of fetuses was reduced to one or two because the genetic disease was present and/or to reduce the risk of premature delivery and improve the likelihood of successful pregnancy. The new approach seems to be highly effective and might be considered a practical and useful alternative to preimplantation genetic diagnosis.

Abortion, Induced↗
PubMed1994

Impact of a regional screening programme using maternal serum alpha fetoprotein (AFP) and human chorionic gonadotrophin (hCG) on the birth incidence of Down's syndrome in the west of Scotland.

OBJECTIVES: To evaluate the impact of a large scale population screening programme on the birth incidence of Down's syndrome in the west of Scotland over a 12 month period. METHODS: Biochemical screening for Down's syndrome using maternal serum alpha fetoprotein, chorionic gonadotrophin, and maternal age was offered to a pregnant population of 37,226 women in the west of Scotland between 1991 and 1992. The combined risk of Down's syndrome pregnancy was reported for each of the 30,084 women who opted for screening. RESULTS: When a threshold risk of 1:220 was used 1523 women (5.1% of the screened population) were assigned to the high risk group, of whom 1070 (70%) proceeded to diagnostic amniocentesis or midtrimester chorionic villus sampling. When multiple sources of ascertainment were used 37 Down's syndrome pregnancies were identified within the screened population, 26 (70%) of which were within the high risk group and 21 (57%) of which were prenatally diagnosed. In addition, three Down's syndrome pregnancies were diagnosed by first trimester chorionic villus sampling before biochemical screening. A further 10 Down's syndrome pregnancies were identified at birth, eight to women who had not had a screening test and two to women who had moved into the area, making a total of 50 Down's syndrome pregnancies in the whole pregnant population of 37,226. Thus the potential prenatal detection rate in the screened population was 70% (26/37), the actual prenatal detection rate in the screened population was 57% (21/37), and the overall prenatal detection rate in the total (screened and unscreened) population was 48% (24/50). CONCLUSION: Biochemical screening for Down's syndrome is practical and effective in routine clinical practice, enabling women to make an informed choice about prenatal diagnosis and providing better use of scarce resources when a suitable protocol is applied to the whole pregnant population. Its maximum potential for the reduction of the birth incidence of Down's syndrome is limited by incomplete uptake of screening and compliance with diagnostic testing in the high risk group.

Adolescent↗
PubMed2002

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.

OBJECTIVE: To investigate presence of trisomy in amniotic epithelium (uncultured amnion) and mesenchyme (cultured amnion) from mosaic cases to understand the origins of these tissues and their relationship to pregnancy outcome. METHODS: Polymerase chain reaction (PCR) of microsatellite loci was used to determine the presence of trisomy (of meiotic origin only) in amnion samples from 33 placentas previously ascertained because of a prenatal diagnosis of trisomy mosaicism that was predominantly confined to the placental tissues. RESULTS: In 16 (48%) of 33 cases, trisomy was confirmed to be present by molecular analysis of uncultured amnion. In contrast, cytogenetic analysis of cultured amnion showed trisomy in only 2 of 20 informative cases. The molecular detection of trisomy in amnion was strongly associated with poor pregnancy outcome (intrauterine growth restriction, fetal anomalies and/or intrauterine/neonatal death) even when analysis was limited to cases negative for the trisomy on amniotic fluid (N = 22, p = 0.0005). CONCLUSIONS: We infer that amniotic mesenchyme (usually diploid) derives from early embryonic mesoderm of the primitive streak and not from the hypoblast as is commonly cited. Trisomy in amniotic epithelium suggests that high numbers of abnormal cells were present in the epiblast, and this correlates with poor outcome even when the subsequently derived fetus and amniotic mesenchyme appear to carry only diploid cells.

Abnormalities, Multiple↗
PubMed2003

Prenatal genetic testing by amniocentesis appears to result in a lower risk of fetal loss than chorionic villus sampling in singleton pregnancies achieved by intracytoplasmic sperm injection.

OBJECTIVE: To compare pregnancy outcome after prenatal genetic testing by chorionic villus sampling (CVS) or amniocentesis in singleton pregnancies achieved by intracytoplasmic sperm injection (ICSI). DESIGN: Retrospective analysis. SETTING: Tertiary referral center. PATIENT(S): Eight hundred twenty-eight patients with singleton gestations achieved by ICSI. INTERVENTION(S): Midtrimester amniocentesis (685 patients) and first-trimester CVS (143 patients). MAIN OUTCOME MEASURE(S): Fetal loss rate, preterm delivery rate, and proportion of babies born with low or very low birth weight. RESULT(S): A significant difference was observed in fetal loss rate between CVS and amniocentesis (3.7% vs. 0.9%, respectively). On the other hand, a similar preterm delivery rate was present between the two methods (11.2% vs. 12.4%, respectively). No significant difference was observed between amniocentesis and CVS in the proportion of babies with birth weight of either <1,500 g (1.8% vs. 3.8%, respectively) or between 1,500 and 2,500 g (8.2% vs. 4.6%, respectively). CONCLUSION(S): Amniocentesis appears to result in a lower risk of fetal loss as compared with CVS in patients with a singleton pregnancy achieved by ICSI.

Abortion, Spontaneous↗