[Chromosomal aberrations--the cause of spontaneous abortions]. / Aberracje chromosomowe jako przyczyna poronien samoistnych.

UNLABELLED: The genetic factor remains the most frequent cause of spontaneous abortions. Examination of the fetal tissue from spontaneous miscarriages shows that 75% of them were caused by abnormal karyotype. Other reasons, albeit rare, included submicroscopic genomic rearrangements, monogenic diseases, and polygenic inheritance disorders of the embryo. OBJECTIVE: The aim of the study was to analyze the incidence of chromosomal aberrations in material from the miscarriage. MATERIAL AND METHODS: The study included 47 samples of miscarriage material from 47 women. Fluorescent hybridization in-situ (FISH) was used for genetic examination. RESULTS: Chromosomal abnormalities were diagnosed in 72% of the samples, with trisomy 21 (25.5%), trisomy 16 (17%), and trisomy 18 (12.8%) as the most common. An abnormal number of copies of chromosome 18, 21, 22, indicating the coexistence of trisomy 18, 21, 22, was detected in 1 patient. It was another miscarriage in case of 14 subjects (29.8%). CONCLUSIONS: Chromosomal aberrations were diagnosed in the majority of fetal tissue samples from spontaneous miscarriages. More than one chromosomal aberration in a single embryo is an extremely rare occurrence. Miscarriage due to chromosomal aberrations occurred in the vast majority of women > 35 years of age.

[Human papilloma virus genotyping in women with abnormal cytology]. / Ocena genotypów wirusów brodawczaka ludzkiego u kobiet z nieprawidlowa cytologia.

OBJECTIVE: To assess presence of HPV infection and identification of the most common HPV types in patients with abnormal cytology based on the Bethesda system (atypical squamous cells). MATERIAL AND METHOD: 81 women with abnormal cytology based on the Bethesda system (atypical squamous cells) were qualified for the study. Material was taken from the cervical canal, the vaginal portion of the cervix and the vagina onto a liquid medium to detect HPV DNA and genotyping of 19 most common oncogenic types of high and medium risk was performed with the Papillomastrip method and for HPV types 6 and 11 with the PCR method. RESULTS: HPV was detected in 53 out of 81 examined women, which accounted for 66%. The most common HPV types were: 6/11 - 23 cases (43% of women with infection), 16 - 23 cases (43% of women with infection), 18 and 33 with 9 cases each (17% of women with infection). Coexistence of 6/11 with 16 or 18 - 13 concerned 15 patients (28% of women with infection) and presence of HPV 16 or 18 was detected in 28 cases (53% of women with infection). Positive HPV type contained in the quadrivalent vaccine against human papillomavirus 6/11 and 16 or 18 was detected in 38 patients (72% of women with infection). 40% of HPV positive women were infected with only one type of the virus, 26%--with two types and 23% with three types. CONCLUSION: In 81 women with abnormal cytology based on the Bethesda system (atypical squamous cells) within 66% of HPV positive results the most common were type 6/11 (of low oncogenic potential but responsible for anogenital warts) and type 16 of high oncogenic potential.

[Fetal Escobar syndrome--a case report]. / Zespól Escobara u plodu--opis przypadku.

The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal recessive disorder which may lead to many serious or even lethal fetal abnormalities. MPS is characterized by pterygia, arthrogryposis (joint contractures), and intrauterine growth restriction (IUGR). In the case described below, increased fetal nuchal translucency was the first abnormality diagnosed already in the first trimester of pregnancy. Other symptoms of the disease were found during the second trimester of pregnancy using ultrasonography examination. Also, genetic amniocentesis revealed no genetic disorders and the Escobar syndrome was diagnosed post mortem. Parental and maternal genetic examinations were performed and allowed for early prenatal diagnostics in the next pregnancy resulting in the birth of a healthy newborn.