Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome
We present application of chromosome microarray analysis (CMA) in the detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 in a second-trimester fetus with multiple congenital anomalies on fetal ultrasound.
Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)
We present prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis (CMA) in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11) (p11.2p13)ins(11) (q21p11.2p13) and maternal intrachromosomal insertion of ins(11) (q21p11.2p13).
Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line
We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound
We present prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis (CMA) in a fetus with multiple congenital anomalies on fetal ultrasound.
Noninvasive prenatal testing (NIPT) results are less accurate the later applied during pregnancy
Noninvasive prenatal testing (NIPT) has been introduced in prenatal genetics, recently. Even though it is connected with biological, technical, medical and ethical issues also reviewed here, it is meanwhile applied as a standard screening test. One of the obvious, but yet not further reviewed peculiarities of NIPT is that the reported false positives rates are variant, specifically in European, compared with Chinese publications.
Prenatal diagnosis and genetic counselling of a rare paternally inherited chromosome 2p21 microdeletion in a Chinese family
Drug-induced thrombotic microangiopathy after adjuvant chemotherapy in malignant ovarian germ cell tumor: A case report and literature review
We presented a rare case of drug-induced thrombotic microangiopathy (DI-TMA) following chemotherapy with the regimen of bleomycin, etoposide, and cisplatin (BEP) in a patient with malignant ovarian germ cell tumor (MOGCT). The objective is to highlight the difficulty in diagnosing and treating DI-TMA associated with BEP chemotherapy.
Retrospective evaluation of obstetric processes in patients with Familial Mediterranean Fever's disease: The three years experience of a tertiary rheumatology clinic
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease affecting both genders in reproductive age. In this study, we aimed to investigate the relation between FMF and pregnancy on both maternal and fetal aspects.
Rapid confirmation of maternal origin of trisomy 21 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency, abnormal first-trimester maternal serum screening result and positive non-invasive prenatal testing for trisomy 21
Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review
Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41-43% of patients and abnormal features on brain imaging in 58-63%. To date, the prenatal phenotype in KS has yet to be defined.
Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects
Mosaicism for r(20) or 46,XY,r(20)(p13q13.3)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the r(20) cell line with no genomic imbalance
Prenatal diagnosis of 22q11.2 distal deletion syndrome in a fetus associated with perinatal growth restriction but no structural abnormalities
First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat
We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.
Erosive stitches of cervical cerclage as a factor of abnormal uterine bleeding: A report of two cases
Abnormal uterine bleeding (AUB) is a prevalent condition in reproductive-aged women that significantly decreases the quality of life. A thorough history is necessary to determine the causes of AUB, which were categorized by the AUB System 2 (PALM-COEIN). AUB has been associated with retained intrauterine objects. However, studies regarding AUB caused by retained stitches of the cervical cerclage were limited.
The clinical experience of fetoscopic repair of myelomeningocele in Taiwan: The dilemma in prenatal decision-making and first successful case
Objective: Myelomeningocele (MMC) is the most severe type of spina bifida, with an incidence of 1.87 per 10,000 live births in Taiwan. Exposure of the lesion to amniotic fluid exacerbates neurological outcomes, while fetal surgery for MMC repair, now a routine practice, improves postnatal outcomes. However, Asian women and their families often find it difficult to accept prenatal defects, leading nearly all pregnancies with fetal MMC to opt for termination without considering fetal surgery.
A case of Fitz-Hugh-Curtis syndrome diagnosed by noninvasive metagenomic next-generation sequencing
Fitz-Hugh-Curtis Syndrome (FHCS) is an inflammation of the liver capsule as a complication of pelvic inflammatory disease (PID) in sexually active women, mostly associated with Chlamydia trachomatis (C. trachomatis) and Neisseria gonorrhoeae. Classically presenting as sharp right upper quadrant pain, usually accompanied salpingitis and ascites. With nonspecific clinical presentation and poor specificity, definitive diagnosis needs tissue biopsy and culture by laparoscopy.
Evaluation of atherogenic indices in patients with endometrioma: A case-control study
To evaluate the cardiovascular risk status of patients with endometriosis using serum lipid parameters and atherogenic indices.
Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line
We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome.
Factors associated with insufficient cervical ripening in a controlled-release dinoprostone vaginal delivery system: A single perinatal center retrospective study
In this study, we aimed to evaluate the factors associated with insufficient cervical ripening in a controlled-release dinoprostone vaginal delivery system (Propess).
Which one occurs first?Telomere length (TL) shortening or PCOS?
