Post-mortem rapid aneuploidy testing for holoprosencephaly.

BACKGROUND: Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post-mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the current study, archived cases of holoprosencephaly, where post-mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF-PCR) technique. METHODS: Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF-PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly. RESULTS: QF-PCR was successful in all seven cases. Two cases of trisomy 13, two cases of triploidy, and one case of trisomy 18 was found meaning a 71% diagnostic yield. The success rate of QF-PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7). CONCLUSIONS: Rapid aneuploidy testing using the QF-PCR technique is a simple, reliable, time- and cost-effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post-mortem.

Morbidly adherent placenta as a cause of peripartum hysterectomy in the Slovak Republic in the years 2012-2020.

OBJECTIVE: The main aim of this study was to analyze the cases of peripartum hysterectomy associated with morbidly adherent placenta in the Slovak Republic. MATERIALS AND METHODS: Cases of morbidly adherent placenta managed by peripartum hysterectomy in the Slovak Republic between January 2012 and December 2020 were retrospectively analyzed. Data were obtained from the standardized anonymous questionnaires. RESULTS: The incidence of morbidly adherent placenta was 0.39 per 1,000 births. A total of 151 (89.9%) women with morbidly adherent placenta were managed by peripartum hysterectomy (38.0% of all peripartum hysterectomies). Placenta accreta, increta and percreta were present in 56.3%, 28.5% and 15.2%, respectively. Placenta previa was present in 60 (39.7%) cases. Up to 112 (74.2%) cases of morbidly adherent placenta were diagnosed at the time of delivery. Hysterectomy was preceded by unsuccessful uterus-saving procedure in 23 (15.2%) of cases. The median of estimated blood loss was 1,500 mL. A packed red blood cells transfusion was used in 138 (91.4%), fresh frozen plasma in 118 (78.2%), fibrinogen concentrate in 39 (25.8%) and tranexamic acid in 25 (16.6%) women. A total of 58 (38.4%) women required admission to an intensive care unit. The mortality rate was 1.3%. CONCLUSION: In recent years, there was an increase in the incidence of morbidly adherent placenta, peripartum hysterectomy in the Slovak Republic, along with an increase in caesarean section rates, too. Case analysis highlights the need to improve the prenatal diagnosis and management of morbidly adherent placenta.

Severe maternal morbidity requiring intensive care units admission in the Slovak Republic - a 9-year population based study.

OBJECTIVE: Analysis of life-threatening maternal morbidities, the condition of which required subsequent treatment in Intensive Care Units (ICU) in the Slovak Republic in the years 2012-2020. METHODOLOGY: Retrospective analysis of 655 identified cases of mothers admitted to the intensive care units out of 436,136 births. The reasons for the transport were divided into nine categories: peripartum bleeding, hypertensive diseases, thromboembolism, cardiovascular diseases, sepsis/severe infections, metabolic diseases, complications of anaesthesiology, gastroenterological problems and others. RESULTS: The total incidence of admission to the intensive care units in the observed period was 1.5 per 1,000 births, but for mothers of Roma nationality it was 8.8 per 1,000 births. The average age of mothers was 30.7 years, while 29.7% were over 35 years old. Overweight and obesity was present by 70.4% of mothers. The most common reason for transport to the ICU (49.3%) was severe postpartum hemorrhage. The second most common cause (26.0%) was hypertensive diseases (preeclampsia, eclampsia and HELLP syndrome). The third most common cause (4.9%) was sepsis and severe maternal infections. The mortality rate of mothers admitted to the ICU was 2.3% and infant mortality of these mothers was 8.7%. CONCLUSION: The incidence of admission of mothers to the ICU in the monitored years was 1.5 per 1,000 births, which in international comparison ranks Slovakia among countries with a lower incidence.

DNA analysis of partial hydatidiform mole revealing triandric monogynic tetraploidy.

The authors present a case of a partial hydatidiform mole where DNA analysis (STR - short tandem repeat genotyping) showed a triandric monogynic tetraploid genome composition with a XXXY gonosomal complement. This genetic finding clinicopathologically correlates with a partial hydatidiform mole, although it is rare in comparison with the typical, diandric monogynic triploid partial moles. The genetic analysis definitively confirmed the suspected diagnosis of a partial mole. To exclude the possibility that molar pregnancy represented retained products of conception after elective pregnancy termination, STR profiles from molar pregnancy and previous products of conception were compared. Short tandem repeats genotyping is a useful molecular genetic method in the differential diagnosis of partial hydatidiform moles, where clinical-pathological findings are frequently ambiguous.