We report a sonographic sign which reliably distinguishes those hydrocephalic fetal heads associated with a neural tube defect from those which are not, particularly in the second trimester. This sign involves a "pointed" deformity of the frontal aspect of the skull in fetuses with hydrocephalus, indicating the presence of a neural tube defect. A retrospective review of 36 cases of hydrocephalus demonstrates that this sign is particularly helpful in the second trimester, where it was present in all the fetuses with hydrocephalus and neural tube defect. It was less reliable in the third trimester; however, this sign was not present in any of the fetuses with hydrocephalus who did not have a neural tube defect. Angulation or pointing of the fetal frontal bone when hydrocephalus is present, particularly in the second trimester, seems to be a reliable predictor of an associated neural tube defect and mandates a careful search for this defect.
Early amniocentesis at 11-14 weeks gestation was evaluated in 100 consecutive patients to see how this technique compares with later amniocentesis. There were no complications as a consequence of the procedure or related pregnancy losses of chromosomally normal fetuses. Samples obtained from three (3%) patients showed insufficient cell growth; two of these patients elected a repeat procedure, which yielded a normal karyotype in each case. There were five abnormal karyotypes, one of which was a culture artifact; in the latter case, repeat amniocentesis at 15 weeks yielded a normal result. Of the 95 pregnancies with normal karyotypes, 94 were progressing normally at follow-up, and one patient elected pregnancy termination because of maternal indications. It appears that early amniocentesis may be an attractive alternative to traditional amniocentesis, in that it provides results at an earlier gestational age and may avoid certain disadvantages of chorionic villus sampling.
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