Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions.

[Hormonal treatment of recurrent spontaneous abortions].

A retrospective study with 79 pregnant women was conducted. All of them were diagnosed as spontaneous abortion. The patients were separated in two group and the women have been treated in two schemes--51%--Utrogestan and 49%--Utrogestan and Profasi.

[Pregnancy complications with abnormal results of biochemical screening for Down syndrome in second trimester and normal fetal karyotype].

Pregnancy complications were studied in the following groups of pregnancies with structurally and chromosomally normal fetuses: 1) 216--with elevated free beta-hCG above 2 MoM and 134--above 2.5 MoM; 2) 37--with elevated alpha-fetoprotein [AFP] above 2 MoM; 3) 67 screen-positive patients below the age of 35. The following complications were compared in the studied and the control groups: preterm delivery and premature rupture of membranes [PROM], preeclampsia (in general and severe one), IUGR without preeclampsia, delivery of small for gestational age [SGA] and low birth weight [LBW] infants and perinatal fetal loss.