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OBJECTIVE: To assess prospectively the risk of fetal loss associated with chorionic villus sampling (CVS) and amniocentesis (AC) following combined first-trimester screening (cFTS) for Down syndrome.METHODS: This was a nationwide population-based study (Danish Fetal Medicine Database, 2008-2010) including 147 987 women with singleton pregnancy who underwent cFTS. Propensity score stratification was used to assess the risk of fetal loss with and without invasive testing. Analyses were performed between 3 and 21 days after cFTS for CVS and between 28 and 42 days after cFTS for AC. Results are reported as average risk differences with 95% CIs.RESULTS: The risks of miscarriage and stillbirth were not higher in women exposed to CVS or AC compared with unexposed women, independent of the analysis time-point. The average effect of CVS on risk of miscarriage was -0.08% (95% CI, -0.64; 0.47) at 3 days and -0.21% (95% CI, -0.58; 0.15) at 21 days after cFTS, while the effect on risk of stillbirth was -0.18% (95% CI, -0.50; 0.13) at 3 days and -0.27% (95% CI, -0.58; 0.04) at 21 days after cFTS. Regarding the effect of AC on risk of miscarriage, the analysis at 28 days after cFTS showed an average effect of 0.56% (95% CI, -0.21; 1.33), while the effect on risk of stillbirth was 0.09% (95% CI, -0.39; 0.58) at 42 days after cFTS.CONCLUSION: Neither CVS nor AC was associated with increased risk of miscarriage or stillbirth. These findings indicate that the procedure-related risk of CVS and AC is very low.

Udgivelsesdato: 2008/3/31

We report a case of a dizygotic monochorionic twin pregnancy preceded by intracytoplasmic sperm injection treatment including assisted hatching. On ultrasound examination at 25 weeks' gestation the twins, which had been assumed to be monochorionic, were found to be of different sexes. Karyotyping and zygocity determination were performed on amniotic fluid and showed the twins to be dizygotic with normal female and male karyotypes. There were clinical and sonographic signs of twin-twin transfusion syndrome (TTTS), and Cesarean delivery was performed at 32 weeks' gestation. At birth the twins were phenotypically a normal male and a normal female. Histology of the placenta showed it to be monochorionic diamniotic. Blood chimerism was found postnatally as both infants had the karyotypes 46,XX[13]/46,XY[17]. Chimerism was not found in cells from a buccal swab at 6 months of age. This is one of only a few reported cases of dizygotic monochorionic twins. Nearly all of these cases have been conceived after assisted reproductive technology procedures. It is of clinical importance to be aware of this rare phenomenon in relation to TTTS, prenatal screening and parental counseling Udgivelsesdato: 2008/11

Two early-2nd-trimester fetuses were aborted as a result of nuchal edema and suspected severe heart malformation. At autopsy one fetus demonstrated nuchal edema, mild hydronephrosis, and cor triatriatum dexter associated with ventricular septal defect and tubular hypoplasia of the aortic arch. The other fetus demonstrated severe nuchal edema, and cor triatriatum dexter was the only malformation. Cor triatriatum dexter is a rare cardiac malformation characterized by division of the right atrium into 2 compartments by a usually fenestrated membrane representing remnants of the right valve of the embryonic sinus venosus. This malformation has been diagnosed in adults and children by echocardiography, surgery, or autopsy but has not previously been published in fetuses Udgivelsesdato: 2008/1

The study objective was to determine the parental origin of triploidy in relation to findings from early risk assessment in a combined screening program between 2004 and the end of 2006. Triploidy was diagnosed in six chorion villus samples and two samples from missed abortions. After informed consent, quantitative fluorescence polymerase chain reaction analysis was performed on the five cases where we received blood from both parents and tissue from fetuses. In four cases the origin of the triploidy was paternal and in one maternal, in accordance with previous findings in type I and type II triploidies. Finding triploidy is possible by risk assessment (ultrasound and double test), and thereby women may have the opportunity for early termination of pregnancy Udgivelsesdato: 2008

Udgivelsesdato: 2008/3/31

Udgivelsesdato: JUL