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PubMed1995

[Management of fetal abnormalities].

Appropriate management of fetal malformations needs confirmation by a tertiary center and search for associated abnormalities and further investigations oriented to causal and prognostic factors. Therapeutic decisions are taken by a multidisciplinary term: pregnancy termination, maternal transfer to a tertiary center, premature delivery or cesarean extraction. Some malformations require immediate surgical treatments, others can be followed up and later corrected. Intrauterine treatments are nowadays evaluated, such as chronic derivations, operative fetoscopy or open fetal surgery. In case of fetal death, a post mortem examination must be performed in order to improve genetic counseling.

Abortion, Therapeutic↗
PubMed1994

Techniques for early diagnosis of the abnormal fetus.

The phenomenal developments in molecular genetics and technological refinements which have occurred over the past decade are revolutionizing the area of prenatal genetics. State-of-the-art care commences with comprehensive preconceptional counseling. Prenatal diagnosis is now feasible from the moment of conception onward. Imaging techniques have allowed non-invasive diagnosis while minimally invasive techniques concentrate on sampling maternal blood for fetal cells or markers of feto-placental metabolism. Invasive techniques are rapidly expanding and becoming safer, comprising of chorionic villus sampling, early amniocentesis, midtrimester amniocentesis as well as very early fetoscopy and umbilical vein sampling.

Congenital Abnormalities↗
PubMed1993

Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.

Invasive prenatal testing has become an important way to evaluate fetuses at increased risk for hereditary disorders. In utero sampling of fetal skin, liver, and muscle may be required to diagnose before-birth disorders that cannot be diagnosed by analysis using chorionic villi or amniotic fluid. In the next few years, many of these conditions will be detected by DNA analysis, and the need for these procedures may decrease dramatically. First performed by fetoscopy, fetal tissue sampling is now most frequently done by inserting a biopsy needle under continuous ultrasonographic guidance. We describe the indications, techniques, complications, and experience with obtaining fetal skin, liver, and muscle biopsy specimens.

Biopsy, Needle↗
PubMed1997

[Surgical treatment of twin-to-twin transfusion syndrome: coagulation of anastomoses with a Nd:YAG laser, under endosonographic control. Forty four cases].

Twin to twin transfusion syndrome occurs in 15% of monozygotic twin pregnancies and is characterized by a hemodynamic imbalance between the two fetuses. Survival is about 10% with expectant management. Our aim is to coagulate the placental vascular anastomoses joining the two fetal circulations on the placenta in order to prevent the consequences on the survivor when one dies in utero. Between November 1993 and April 1996, 44 patients were referred with severe twin to twin transfusion syndrome at less than 28 weeks' gestation. Nd:YAG laser coagulation of the placental vessels crossing the interamniotic membrane was performed under sono-endoscopic control. Forty-one patients have completed their pregnancy and 3 are continuing uneventfully in the third trimester. Fifteen patients (36.5%) delivered 2 healthy infants who survived the neonatal period and are developing normally. Sixteen patients (41.5%) delivered one infant developing, normally after the death of the co-twin in the perinatal period. In ten cases (22%) both twins died in the perinatal period. Among the survivors, 3 (9%) present with neurological handicap at a median age of 9 months. Around 75% (31/41) pregnancies complicated by twin to twin transfusion and treated by fetoscopy delivered at least one healthy baby. These data confirm the feasibility of the technique and that morbidity in-the survivors is relatively low.

Endosonography↗
PubMed2006

Prenatal intervention for isolated congenital diaphragmatic hernia.

PURPOSE OF REVIEW: We aim to review the recent literature regarding early prenatal prediction of outcome in babies diagnosed with isolated congenital diaphragmatic hernia, as well as results of fetal therapy for this condition. RECENT FINDINGS: Current survival rates in population-based studies are around 55-70%. Highly specialized centers report 80% and more, but discount the hidden mortality, mainly in the antenatal period. Fetuses presenting with liver herniation and a lung-to-head ratio of less than 1.0 measured in midgestation have a poor prognosis. Other volumetric techniques are being evaluated for use in midtrimester. Recently, a randomized trial failed to show benefit from prenatal therapy, but lacked power to document the potential advantage of prenatal therapy in severe cases. We proposed percutaneous fetal endoluminal tracheal occlusion with a balloon at 26-28 weeks through a 3.3 mm incision. In severe cases, fetal endoluminal tracheal occlusion increased lung size as well as survival, with an early (7 day) survival, late neonatal (28 day) survival and survival at discharge of 75, 58 and 50%, respectively, comparing favorably with 9% in contemporary controls. Airways can be restored prior to birth improving neonatal survival (83.3% compared with 33.3%). The procedure carries a risk for preterm prelabour rupture of the fetal membranes, although that may decrease with experience. SUMMARY: Fetuses with severe congenital diaphragmatic hernia can be identified in the second trimester. Fetal endoluminal tracheal occlusion can be considered as a minimally invasive fetal therapy, improving outcome in such highly selected cases.

Female↗
PubMed2003

In utero repair of myelomeningocele: experimental pathophysiology, initial clinical experience, and outcomes.

HYPOTHESIS: Experimental work raises the possibility that in utero repair of myelomeningocele (MMC) may improve lower extremity, bladder, and bowel function, ameliorate the Arnold-Chiari malformation, and decrease the need for postnatal shunting. DESIGN: We previously developed fetal lamb models to create and reverse lower extremity damage and the Arnold-Chiari malformation in utero. We then applied our extensive experience with fetal surgery, including fetal endoscopic (fetoscopic) surgical manipulation, to develop techniques for MMC repair. SETTING: A tertiary referral center. PATIENTS: All patients treated between 1998 and 2002 for a prenatally diagnosed MMC. INTERVENTIONS: Either fetoscopic MMC repair, fetoscopic patch repair, or limited maternal hysterotomy and microsurgical 3-layered fetal MMC repair was performed. MAIN OUTCOME MEASURES: Gestational age at delivery, survival, neurologic outcome, and need for ventricular shunting at 1 year. RESULTS: Complete fetoscopic repair was accomplished in 1 fetus. Two other fetuses underwent partial fetoscopic procedures. The remaining 10 patients underwent limited maternal hysterotomy and microsurgical 3-layered fetal MMC repair. Four of 13 patients died, and the mean gestational age at delivery of 11 fetuses born alive was 31 weeks. Five of 9 required ventricular shunting by age 1 year. In 2 patients, lower extremity function improved by more than 2 vertebral levels compared with prenatal ultrasonography. Five of 10 patients who lived longer than 3 weeks required postnatal wound revision within 7 days after birth. CONCLUSIONS: Fetoscopic repair, although feasible, does not yet yield optimal surgical results. Open surgical repair before 22 weeks' gestation is physiologically sound and technically feasible. One third of patients appear to be spared the need for a shunt at age 1 year, but improvement in distal neurologic function is less clear. Additionally, fetal mortality is associated with this procedure. Our results complement the data published by groups at Children's Hospital of Philadelphia, in Pennsylvania, and Vanderbilt University, Nashville, Tenn. A National Institutes of Health-sponsored prospective randomized trial is now underway at these 3 centers to compare fetal repair with postnatal repair.

Adult↗
PubMed2002

Neural tube defects in missed abortions: embryoscopic and cytogenetic findings.

Transcervical embryoscopy, a new technique for direct visualization of the first trimester conceptus was carried out in 116 cases of missed abortion. Embryonic neural tube defects and other localized developmental defects, were diagnosed in 10 out of 99 cases in which a complete embryoscopic evaluation was possible. All eight successfully karyotyped cases had a numerical chromosomal abnormality. A ninth unkaryotyped embryo with open spina bifida showed, on embryoscopy, a malformation pattern highly suggestive of triploidy. Our embryoscopic and cytogenetic findings provide valuable information for genetic counseling in future pregnancies.

Abortion, Missed↗
PubMed2002

Generalized abnormal embryonic development in missed abortion: embryoscopic and cytogenetic findings.

A direct view of the embryo by means of transcervical embryoscopy prior to evacuation in 154 cases of missed abortion showed general embryonic maldevelopment in 48 cases (31%). A successful cytogenetic evaluation of these growth-disorganized embryos was performed in 37. Chromosomal abnormalities were found in 26 cases (70%), with autosomal trisomies in 24 cases (92%). Trisomies involved chromosome 3 (one case), 6 (one case), 8 (two cases), 10 (one case), 12 (two cases), 14 (one case), 16 (11 cases), 20 (one case), and 22 (four cases). Most of these chromosome abnormalities represented nonviable defects, and their presence explained the minimal embryonic development observed embryoscopically. An apparently normal karyotype was observed in 11 growth-disorganized embryos whose maldevelopment was similar to that resulting from the trisomies listed above. The factors responsible for embryonic maldevelopment with a normal karyotype are presently unknown and require further study, including investigation of imprinting defects, subtelomeric abnormalities, and cryptic mosaicism.

Abortion, Missed↗
PubMed1980

Limitations of amniography in the prenatal diagnosis of spina bifida.

A fetus with an open, noncystic myelomeningocele was detected at the 22nd week of gestation in a woman monitored for advanced maternal age. The lesion could not be demonstrated on amniography. In 13% of published reports amniography failed to detect significant spina bifida lesions. This false-negative rate seems related to the noncystic nature of some neural tube defects at midgestation.

Amniotic Fluid↗
PubMed1984

Cytogenetic diagnosis using midtrimester fetal blood samples: application to suspected mosaicism and other diagnostic problems.

Cytogenetic studies on fetal blood cells obtained at 18-25 weeks gestation have provided information for decision making in 25 cases identified as being at high risk of having an abnormal fetus. In particular, in the 21 cases studied to consider the possibility of true mosaicism, confirmation in fetal blood was obtained in three, one of which presented as a pseudomosaic on the original amniotic fluid cell study. Fetal blood was also informative in two cases (one positive and the other negative) in which a diagnosis of the fragile X syndrome was being considered. Furthermore, when high risk pregnancies presented late in gestation (21-24 weeks), these methods allowed for a rapid cytogenetic diagnosis. The procedure has proved useful in most of these cases since the couples involved had indicated that they would probably have terminated the pregnancy without the reassurance of normal fetal lymphocyte studies. Since the technique carries a much higher risk of pregnancy loss than does amniocentesis, its use should only be considered when there are compelling indications.

Cells, Cultured↗
PubMed1993

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

Amniocentesis and fetal skin biopsies were performed at 18 weeks of gestation in a fetus at risk for autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under investigation had died at 3 months of EBJ. The mother of the propositus has ADPKD. Genetic linkage studies were carried out in 11 relatives (4 with ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8 flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and a DNA marker linked to another putative ADPKD locus on chromosome 2p. The linkage results indicated that the fetus had not inherited the ADPKD chromosome from the affected mother, with a diagnostic accuracy of > 99%. Ultrastructural and immunohistochemical analyses of multiple fetal skin biopsies showed no EBJ-associated abnormalities. Thus, combining recent morphological and molecular diagnostic methods, we could show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered.

Adult↗
PubMed1986

Routine obstetric ultrasound: effectiveness of cross-sectional screening for fetal growth retardation.

Sonographic detection of fetal growth retardation was evaluated on a sample of 778 patients routinely scanned over a 16-month period. From the 29th week to term, the sensitivity of abdominal circumference measurement progressively increased from 41% to 88% (P less than 0.01). Higher rates were achieved by using the biparietal diameter but false-positive diagnoses were twice as frequent as with the abdominal measurements. When the limitations in precision of abdominal circumference were considered, the screening rate of this parameter increased about 16%. Moreover, 50% of the false-negative diagnoses were made on fetuses weighing between the fifth and 10th centiles at birth. These diagnostic indices for biparietal diameter and abdominal circumference evaluated on a retrospective series proved to be lower than those reported for the prospective selected series. However, the results yielded by routine ultrasound were better than those obtained with clinical or traditional biochemical methods. These findings underline the importance of sonography not only in serial control of high-risk pregnancies but also in cross-sectional screening programs.

Diagnostic Errors↗
PubMed2005

Management of fetofetal transfusion syndrome.

Feto-fetal transfusion syndrome contributes heavily to high rates of perinatal mortality and morbidity in monochorionic multiple pregnancies. Its prenatal management has been controversial for at least 25 years. We review the recent literature in order to present the basis for a pragmatic reappraisal of the management of this condition. Laser surgery of the chorionic plate inter-twin anastomoses is the best first-line treatment when the syndrome develops before 26 weeks' gestation. Survival (including quality of survival) and gestational age at delivery are improved when compared to serial amnioreduction. Second-line treatment options include repeat-laser, intra-uterine blood transfusion, serial amnioreduction, selective feticide using bipolar cord coagulation or elective delivery, depending upon gestational age and the severity of the disease and its complications. We have found that fetoscopic placental surgery has proven itself over simplicity of amnioreduction. There is no evidence that treatment should be customized according to the stage of the disease at diagnosis. Early recognition of the syndrome through fortnightly serial ultrasound follow-up of all monochorionic pregnancies should ensure timely referral and make up for geographical constraints. Laser surgery should now be available in fetal medicine units that are managing at least 20 cases per year.

Decision Trees↗
PubMedDate not supplied

Errors in plasma creatine kinase estimations on fetal blood samples resulting from contamination with amniotic fluid and maternal blood: relevance for the prenatal diagnosis of Duchenne muscular dystrophy.

This paper presents a detailed analysis of the calculation of fetal plasma CK activity in fetal blood samples contaminated with amniotic fluid and maternal blood. The seemingly simple formula for this calculation, first presented by Mahoney et al. (1977), is actually more complex than it appears; values for up to nine variables, two of which can only be assumed, are needed. Small variations in certain variables may result in very large errors in the final calculated value of fetal plasma CK activity. Examples of diluted blood samples are considered and the effects of allowing for reasonable errors in the variables is explored. The main source of error is in the measurement of CK activities in the diluted blood sample and in the amniotic fluid. Contamination by blood originating from the maternal circulation can also be a large source of error, especially if the mother is a carrier of DMD and maintains a high level of plasma CK activity during pregnancy. Fetal blood indices have to be assumed; these may be a source of significant error, depending on the difference between the actual and assumed values. The measurement of fetal plasma CK activity by the indirect calculation method is discussed in the context of the prenatal diagnosis of DMD.

Amniocentesis↗
PubMed1988

Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound.

In a pregnant woman without increased genetic risk, the presence of distrophic dysplasia of the fetus was diagnosed sonographically at 31 weeks' gestation and definitively distinguished from other skeletal dysplasias. In all prenatal diagnosis of diastrophic dysplasia reported so far, this autosomal recessive congenital condition had occurred in the family's previous children and this made the diagnoses of fetal diastrophic dysplasia easier. The reported case was diagnosed due to evidence of an extreme shortening of all long bones of the extremities associated with other skeletal deformities which, taken as a whole, are typical of this syndrome: micrognathia, cervical kyphosis, persistent extension limitation in elbow and knee joints, club feet, ulnar diviation of hands, shortened phalanges, and, in particular, abduction of thumbs ('hitchhiker thumbs') and big toes.

Adult↗