Prenatal diagnosis of Emanuel syndrome - case series and review of the literature.

We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities were seen and in one hypoplastic right ventricle was diagnosed at the first trimester scan.

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing.

Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Objectives: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).

Methods: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department.

Results: The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (- 0.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

Congenital heart defects (CHDs) appear in 8-10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3-5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects.

Extended genetic testing in fetuses with sonographic skeletal system abnormalities.

Objectives: To analyze genetic causes of skeletal system abnormalities diagnosed by prenatal sonography and to establish a diagnostic protocol with regard to extended genetic testing in this group of patients.

Methods: This prospective observational cohort study included all singleton pregnancies with a sonographic abnormality of the skeletal system evaluated in a single ultrasound department during a 1-year period (2019). Fetuses underwent routine genetic testing by chromosomal microarray analysis (CMA) supplemented with polyploidy testing, and those with either a normal result or an abnormal result not consistent with the observed phenotype underwent exome sequencing (ES).

Triploid pregnancy-Clinical implications.

Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages.

Distribution of diandric and digynic triploidy depending on gestational age.

Purpose: To establish the distribution of diandric and digynic triploidy depending on gestational age.

Methods: 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: <11 gestational weeks, 11-14 gestational weeks, and >14 gestational weeks.

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).

Background: Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.

Case Presentation: The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT).

Twin pregnancies discordant for digynic triploidy - A case series.

Objective: To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy.

Case Report: We present five cases of twins discordant for digynic triploidy. Pregnancy outcome was known for three of them.

Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.

Introduction: Inborn errors of metabolism (IEM) also called metabolic diseases constitute a large and heterogenous group of disorders characterized by a failure of essential cellular functions. Antenatal manifestation of IEM is absent or nonspecific, which makes prenatal diagnosis challenging. Glutaric acidemia type 2 (GA2) is a rare metabolic disease clinically manifested in three different ways: neonatal-onset with congenital anomalies, neonatal-onset without congenital anomalies and late-onset.

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.

Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric cases, opposite to digynic ones, may lead to gestational trophoblastic neoplasia (GTN) or generate maternal complications, therefore their identification is crucial, but reproducibility of traditionally used histopathological assessment is poor. The aim of the study was to analyse the usefulness of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) with probes for two differentially methylated regions (DMR) at chromosome 11p.

In-house genetic counseling increases the detection of abnormal karyotypes-a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland.

Purpose: To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital.

Methods: A retrospective analysis of invasive prenatal procedures performed between 1991 and 2016. Maternal characteristics, indications for invasive diagnosis, and percentage of abnormal karyotypes were compared between periods according to guidelines implemented nationally and locally.

Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review.

Objectives: Assessment of the maternal complications in molecularly confirmed diandric and digynic triploid pregnancies.

Methods: Sonographic features, biochemical results, and clinical presentation were analyzed. Beta-hCG level was controlled after diandric triploidy.

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.

Objectives: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele.

Methods: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele.

Results: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.

The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency.

Objective: The aim of the report is to highlight importance of careful ultrasound examination and genetic counsel in case of split hand/foot prenatal diagnosis. Evaluation of the accompanying long bone deficiency indicates that array comparative genomic hybridization (aCGH) should be used.

Case Report: We present a prenatal diagnosis of split hand/foot malformation with long bone deficiency type 3 (SHFLD3) in a patient suffering from congenital limb anomalies but without previous molecular diagnosis.

The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex.

Otocephaly is an extremely rare lethal congenital anomaly characterized by the absence or underdevelopment of the mandible. The clinical presentation is variable. Some cases may present with severe micrognathia as the only anomaly seen prenatally.

Complex malformations involving the fetal body wall - definition and classification issues.

Objective: The objective of the study is to analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature.

Method: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015.

Results: The most common sonographic finding was an extensive ventral wall defect (95.

Triploidy - variability of sonographic phenotypes.

Objectives: To analyze sonographic abnormalities in triploid pregnancies and assess the usefulness of the classification proposed by McFadden and Kalousek for prenatal sonographic assessment of triploid fetuses.

Methods: We conducted a retrospective analysis of the sonographic features in a series of 67 triploid fetuses evaluated between 11 and 30 weeks of gestation in a single referral center between 1997 and 2015.

Results: Non-specific structural fetal defects were visualized in the majority of fetuses (61.

Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.

Aim: The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis.

Methods: A retrospective analysis of 201 prenatal tests was performed in 169 Polish women at risk, in regard to time of testing for carrier status (prior to conception or during pregnancy) and carrier status of tested women, including confirmed D/BMD carriers (n = 78; 46.2%), D/BMD non-carriers - tested for germline mosaicism risk (n = 23; 13.

Targeted prenatal diagnosis of Pallister-Killian syndrome.

Objective: To present five new cases of prenatally diagnosed Pallister-Killian syndrome (PKS) and to propose an approach for a targeted diagnosis.

Method: We retrospectively analyzed ultrasound findings and cytogenetic results in PKS. We also searched through dysmorphology databases for features occurring in PKS that could potentially be seen in prenatal ultrasound examination.

Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus.

The authors present a clinical report of the giant fetal tumor protruding from the oral cavity diagnosed sonographically at 32 weeks of gestation as an epignathus. After delivery, tumor proved to be a presentation of the blue rubber bleb nevus syndrome. To the best of our knowledge, the literature offers no reports on similar cases.