Partial trisomy 9: prenatal diagnosis and recurrence within same family.

Trisomy 9 can be suspected and confirmed in the prenatal period since the 11-13.6 weeks of screening. In cases of partial trisomy 9, the diagnosis is important especially to counseling the couple due to the increased likelihood of recurrence in subsequent pregnancies.

[Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. Initial experience in Mexican women and literature review].

Background: Discovery of cell-free fetal DNA (cffDNA) in maternal blood in 1997 by Lo et al. has opened the possibility of a noninvasive prenatal test (NIPT). Currently, it is employed in the analysis of aneuploidies and fetal sex determination.

[Recurrent aneuploidy in first trimester gestational loss: a case report and review of the literature].

Miscarriage is the loss of pregnancy before 20 weeks of gestation and occurs in 15% of clinically recognized pregnancies. However, 5% of couples present recurrent abortion, which means more than two losses whether consecutive or not. One of the main causes of both, spontaneous and recurrent abortion, are genetic.

[Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis].

Background: Duchenne muscular dystrophy (DMD) is the most frequent inherited and lethal neuromuscular disorder in humans. Molecular prenatal diagnosis of DMD through amniocentesis is a real preventive reproductive option in our country, although experience with chorionic villus sampling is still limited (CVS).

Objective: Perform the first prenatal diagnosis in an obligate DMD carrier woman in Mexico by CVS.