Early amniocentesis: report of 407 cases with neonatal follow-up

Article Abstract:

Two techniques for diagnosing fetal chromosome abnormalities before birth, amniocentesis (sampling amniotic fluid for fetal cells) and chorionic villus biopsy (CVS, sampling fetal membranes), each have certain disadvantages. Amniocentesis is performed in the 15th or 16th week of pregnancy, necessitating termination rather late in gestation if the results are unfavorable and the woman so desires; and CVS is usually limited to medical centers that specialize in prenatal care. It is possible that early amniocentesis (between weeks 11 and 14 of gestation) is a good alternative. To evaluate this, the outcome and complication rates were studied after amniocentesis at 11 weeks for 9 women; at 12 weeks for 179 women; at 13 weeks for 177 women; and 14 weeks for 42 women. Most of these procedures were performed because of advanced maternal age (over 35). An interval of two to three weeks elapsed between amniocentesis and the time the results were available; culture failure (failure of sampled cells to grow properly) occurred in seven cases. Cellular abnormalities, including chromosomal defects, were found in slightly fewer than 4 percent of the cases: this included seven aneuploidies (extra chromosomes), one chromosomal translocation, two structural abnormalities, five cases of chromosomal mosaicism (more than one fetal karyotype), and other defects. Ten mothers elected pregnancy termination; fetal death occurred in six cases, and miscarriage (within four weeks of amniocentesis) occurred in nine. The miscarriages, while not directly related to the procedure, occurred in women who experienced complications within 24 hours after it was performed. All fetuses affected were genetically normal. However, many women with complications after amniocentesis did not have miscarriages. Eight fetuses had orthopedic deformities (four clubbed feet), some of which could have been a consequence of amniotic fluid loss during the procedure. Other neonatal outcomes are discussed. The total fetal loss rate and the accuracy of this procedure compare favorably with data published in other studies. Early amniocentesis is a promising alternative to other methods of prenatal diagnosis and should be evaluated further in prospective studies. (Consumer Summary produced by Reliance Medical Information, Inc.)

Amniocentesis

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Elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein after multifetal pregnancy reduction

Article Abstract:

The increased use of drugs that induce ovulation to improve fertility have made multiple gestations more common. In cases where more than two fetuses result, selective termination may be performed if the mother so desires. To determine whether high levels of maternal serum alpha-fetoprotein (MSAFP) predict defects in the remaining infants, a study was performed with 40 patients initially pregnant with 141 fetuses. MSAFP levels are elevated when fetal abnormalities are present such as neural tube defects (a type of abnormal nervous system development), associated with spina bifida and failure of much of the brain to develop. Pregnancy reductions were performed on all women, leaving a group of 32 participating mothers who underwent prenatal diagnosis for the remaining fetuses. Sixteen of these had MSAFP screening only, and the remaining 16 underwent amniocentesis (sampling of amniotic fluid). Blood was sampled from six women in the latter group for evaluation of MSAFP levels. Results showed that MSAFP level was elevated for 21 of the 22 women for whom it was assayed, and amniocentesis was recommended for those who had not already undergone this procedure. Of the 53 specimens of amniotic fluid samples (from 27 patients), 13 had elevated alpha-fetoprotein (AFP) levels. The magnitude of amniotic AFP elevation did not correlate with the magnitude of MSAFP elevation; moreover, no infant had a neural tube defect. The results indicate that screening for elevated MSAFP levels is not useful in women who have undergone pregnancy reduction, since levels remain high for several weeks. Women in this situation are extremely anxious and are not helped by learning that their MSAFP levels are abnormally high. Instead, ultrasound studies should be performed to diagnose possible structural defects. (Consumer Summary produced by Reliance Medical Information, Inc.)

Measurement, Alpha fetoproteins

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Umbilical cord hematoma following diagnostic funipuncture

Article Abstract:

Complications after funipuncture (cordocentesis; withdrawal of a blood sample from the fetal umbilical cord) are rare, but can be fatal. A report is presented of a case in which funipuncture at a gestational age of 29 weeks led to a large hematoma (pool of blood) in the umbilical cord and fetal death within 5 minutes. The procedure was being performed for karyotyping (chromosome analysis), since several abnormalities had been detected on ultrasound examination. The fetus was found to have trisomy 18, a severe genetic defect. Funipuncture can provide results concerning fetal genetics faster than amniocentesis. However, fetuses with malformations may be especially vulnerable to funipuncture. Parents should be informed regarding the possible consequences of the procedure and staff should be prepared for major complications, should they occur. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Injuries, Causes of, Hematoma, Umbilical cord, Fetal death, Cordocentesis

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