Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8%) abnormal cases, including 12 cases (2.4%) with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

Hemangioma in the newborn: increased incidence after chorionic villus sampling.

OBJECTIVES: This study was designed to compare the effects of transcervical chorionic villus sampling (CVS) and amniocentesis on the prevalence of hemangiomas of infancy. METHODS: This is a cohort study of 250 consecutive assessable transabdominal amniocentesis procedures and 250 consecutive assessable transcervical CVS procedures performed between January and September 2002. Parents were asked to fill out a questionnaire regarding the presence of any type of skin lesions. Based on the responses to the questionnaire, children were invited to undergo a physical examination to confirm hemangiomas. RESULTS: Questionnaires were returned in 78% of the CVS group (195/250) and in 72% of the amniocentesis group (180/250). Based on the responses in the questionnaire, 78 children in the CVS group and 42 in the amniocentesis group underwent a physical examination. One or more hemangiomas were present in 53 of 195 (27.2%) children in the CVS group versus 17 of 180 (9.4%) children in the amniocentesis group (odds ratio 3.6, 95% CI: 2.0-6.5). There was no difference in congenital abnormalities between the two groups. CONCLUSION: Transcervical CVS is associated with a significantly increased prevalence of hemangiomas compared with amniocentesis. The clinical features of these hemangiomas do not differ from natural hemangiomas and complications of these hemangiomas are very rare.

Mifepristone and misoprostol versus Dilapan and sulprostone for second trimester termination of pregnancy.

OBJECTIVE: To compare two methods for second trimester termination of pregnancy: mifepristone and misoprostol versus Dilapan and sulprostone. METHODS: This was a randomized study involving 16 patients with a singleton live fetus with congenital malformations or genetic disorders. Eight patients were treated with 200 mg mifepristone orally followed by 200 microg misoprostol vaginally 3 hourly and eight patients received a sulprostone infusion after cervical dilatation with Dilapan. RESULTS: Mifepristone and misoprostol had a mean induction interval of 17.8 hours and sulprostone and Dilapan 20.9 hours. The mean induction interval did not differ significantly. Mean hospital stay was shorter in the patients treated with misoprostol: 2.1 vs. 3.3 days (p = 0.02) with a 95% confidence interval of -2.1 to 0.3. CONCLUSION: Mifepristone and misoprostol did not reduce the induction interval significantly compared to the sulprostone and Dilapan treatment for second trimester pregnancy termination. Hospital admission was significantly shorter in patients treated with mifepristone and misoprostol.