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To investigate the frequency and type of abnormal karyotype in Japan by amniocentesis before 22 weeks of gestation. We performed a retrospective analysis of 28 983 amniotic fluid specimens in a local population collected before 22 weeks gestations for fetal karyotyping. The incidence of abnormal karyotype was 6.0%. The main indication was advanced maternal age (AMA) of 35 years and older, which represented over half of the clinical indications. Abnormal karyotype was most frequently reported among the referrals for abnormal ultrasound findings (21.8%), followed by positive maternal serum screen results (5.3%). Three-fourths of abnormal karyotype was either autosomal aneuploidy (64.0%) or sex chromosome aneuploidy (11.6%). Abnormal karyotype was detected in 2.8% of pregnant women referred for AMA. Clinically significant abnormal karyotype increased with advancing maternal age. The frequency and type of abnormal karyotype detected by amniocentesis for various indications were determined. Amniocentesis was mainly performed among the referrals for AMA, which is a characteristic distribution of indications of Japan. [ABSTRACT FROM AUTHOR]

The rudimentary horn is a rare developmental anomaly of the Müllerian duct. Ectopic pregnancy in the rudimentary horn is estimated to occur in one out of 76,000-150,000 pregnancies. A 30-year-old primigravida suddenly collapsed after 3 days of continuous abdominal pain. Emergency laparotomy revealed a massive intraperitoneal hemorrhage and fetal demise. The growth of the fetus after 19 weeks of gestation is believed to have caused the rudimentary horn rupture, thereby rapidly leading to hemorrhagic shock in the mother and ischemic death in the fetus. This is the first autopsy report on maternal death due to the rudimentary horn or other Müllerian duct anomalies, which emphasizes the need for forensic pathologists to consider this condition as a possible cause of unexpected death in fertile women. In addition, it is very important for clinicians to detect Müllerian duct anomalies by sonography during routine obstetric examinations, and promptly diagnose anomaly related ectopic pregnancies in women displaying symptoms of an acute abdomen, intraperitoneal hemorrhage, or shock in the emergency practice. [ABSTRACT FROM AUTHOR]