Miscarriage risk from amniocentesis performed for abnormal maternal serum screening.

OBJECTIVE: The purpose of this study was to evaluate miscarriage after mid-trimester amniocentesis for abnormal maternal serum screening. STUDY DESIGN: An analysis of summary data from the California State maternal serum screening program on 32,050 women with an abnormal serum screen, a singleton fetus, and normal ultrasound was performed. Miscarriage before 24 weeks, days until miscarriage, gestational age at miscarriage, and maternal factors were compared. The power of this study could detect a 50% increase in miscarriage. RESULTS: The miscarriage rate with amniocentesis, 0.46% (69/15,005), was no different than without, 0.53% (90/17,045), P = .38. There was no difference in maternal age, serum biochemical factors, gestational age at miscarriage (21.1 weeks for both groups), or days until miscarriage (23 after amniocentesis and 20.4 without). Log-rank test revealed no difference for gestational age at miscarriage (P = .61) or number of days until miscarriage (P = .40). CONCLUSION: The rate and timing of miscarriage was similar with or without amniocentesis in California women with abnormal maternal serum screening.

The newborn screening educational gap: what prenatal care providers do compared with what is expected.

OBJECTIVE: The purpose of this evaluation was to examine prenatal care providers' knowledge of, attitudes towards, and barriers for providing information about newborn screening and tandem mass spectrometry (MS/MS) screening. STUDY DESIGN: We mailed a 12-question survey to 6197 prenatal care providers in California asking about their experiences with newborn and prenatal screening services. RESULTS: Although 4/5 of respondents believe newborn screening is very important for their patients, only 1/3 discuss it with all their patients. Over half believe either pediatricians (38%) or hospital staff (36%) will discuss newborn screening. Only 61% of providers give their patients the newborn screening educational booklet, even though California law requires that the booklet be provided to all pregnant women. CONCLUSION: Pregnant women and state professionals rely on prenatal care providers to educate pregnant women about newborn screening; however, many providers do not appear to view it as part of their responsibility. Therefore, the state needs to improve communication with both providers and the public about newborn screening.

Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samples.

BACKGROUND: Down syndrome screening is commonly performed in the US using maternal age and three or four second-trimester maternal serum markers that can identify up to 75% of affected pregnancies by offering diagnostic studies to 5% of women. Invasive trophoblast antigen [ITA; hyperglycosylated human chorionic gonadotropin (hCG)] is a promising marker that can be measured in urine or serum in the first or second trimester. We report preliminary results for urinary ITA in an ongoing observational study. METHODS: Women undergoing second-trimester amniocentesis for reasons not associated with biochemical testing provided consent and a urine (and possibly serum) sample that was tested within a few days. Demographic and pregnancy-related information was collected, along with karyotype. Screening performance was modeled for ITA alone and in combination with serum markers RESULTS: Twelve recruitment centers collected urine from 2055 women with singleton pregnancies between 15 and 20 weeks of gestation (2023 unaffected, 28 Down syndrome, and 4 pregnancies with other chromosome abnormalities). After correction for gestational age, urine concentration, and maternal race and weight, the ITA measurements were higher in women with a Down syndrome pregnancy (median ITA, 4.33 multiples of the median). At a 75% detection rate, the false-positive rate could be reduced by substituting ITA for hCG measurements (from 5.6% to 2.6% for the triple test) or by adding ITA measurements to existing combinations (from 3.3% to 2.0% for the quadruple test). CONCLUSIONS: Our data provide preliminary confirmation of the potential usefulness of urinary ITA measurements in detecting Down syndrome in a setting that simulates routine usage.