PubMed · 5249850
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1968. Abortion.. https://pubmed.ncbi.nlm.nih.gov/5249850/
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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.
The paper deals with first trimester diagnosis of exencephaly. In association with first trimester sonographic and cytogenetic screening of chromosomal anomalies in 1145 examined pregnancies 2 exencephalic fetuses with normal karyotype were diagnosed. Exencephaly was characterized with the absence of normal echoes of the exocranium, the lateral ventricles, the chorioid plexus, the cerebral falx, and with the presence of deformed shape of the head and irregular, lobulated cerebral material with increasing volume at follow-up examination. Anencephalic fetuses were diagnosed subsequent to therapeutic abortion, since the uterine and cervical wall contractions eroded the fragile brain tissue during fetal expulsion. However, fetal brain was identified in abortion material in both cases providing evidence that exencephaly is an embryologic precursor of anencephaly.
On the basis of prenatal identification of a cleft lip by embryoscopy, a case of van der Woude syndrome was diagnosed at 11 menstrual weeks, allowing for early termination of pregnancy. The potential of embryoscopy to detect minor malformations in early pregnancy is discussed from both the technical and the ethical point of view.