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Paper 4
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Monosomy X is Turner syndrome. Chest radiograph may demonstrate thinning of the lateral aspect of the clavicles as well thinned and narrow ribs with pseudo notching. Triploidy is the third commonest fatal chromosomal anomaly, with most associated with spontaneous abortions. Trisomy 13 is Patau syndrome. Most infants do not live more than a few days. Trisomy 18 is Edwards syndrome. The mean infant survival in this condition is 48 days.
Knowledge Area 5: Antenatal Care
Published in Rekha Wuntakal, Ziena Abdullah, Tony Hollingworth, Get Through MRCOG Part 1, 2020
Rekha Wuntakal, Ziena Abdullah, Tony Hollingworth
Trisomy 18 is also called Edwards syndrome. The incidence is 1:5000 newborns. Fetal loss (85%) usually occurs between 10 weeks of gestation and term, and those born alive usually die within 2 months (10% survive to 1 year). In addition to the features described, it is associated with abnormalities of the skeletal system, omphalocele, intrauterine growth retardation and severe learning disability.Further readingSarris I, Sangeeta A, Susan B. Training in Obstetrics and Gynaecology: The Essential Curriculum. Oxford, UK: Oxford University Press, 2009, pp. 391–416.
What Genetic Screening Is Appropriate in Recurrent Pregnancy Loss?
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
The same markers can also detect a large proportion of Edwards syndrome cases; in the second trimester this requires a separate risk cutoff, but in the first trimester most are detected because of increased Down syndrome risks. Many of the remaining severe but nonlethal chromosomal abnormalities are also detected incidentally because of high Down syndrome risk [7]. Although even more are associated with extreme marker levels, particularly NT [8], it is not routine practice to calculate risks for these other disorders.
Neonatal outcomes and congenital anomalies in pregnancies affected by hypothyroidism
Published in Annals of Medicine, 2021
Zareen Kiran, Aisha Sheikh, Khadija Nuzhat Humayun, Najmul Islam
Most studies reported major congenital anomalies as a perinatal outcome of hypothyroid mothers but did not describe the details of the anomalies [18]. Among the significant congenital anomalies, our cohort had more cardiovascular defects (CVD) with highest prevalence of Patent Ductus Arteriosus (PDA) (1.2%) followed by Ventricular Septal Defect (VSD) (1.1%). Literature is limited regarding neonates of hypothyroid mothers without congenital hypothyroidism developing cardiovascular defects. A study from India reported higher CVD than other anomalies amongst congenital hypothyroid neonates [42], which is similar to a Mexican study with a larger sample size and with PDA as the second most common CVD [43]. Urogenital tract was the second clinically important organ system involved in our neonates. A study from Iran has reported significant association of presence of urogenital anomalies with congenital hypothyroidism (OR 2.04; 95%CI: 1.1–3.6; p ≤0.05) [38]. We also observed that births to women diagnosed during pregnancy are 2.3 times more likely to have a congenital anomaly or condition. We have no local data to compare this effect, however, this subject is also rarely explored in literature. One of our neonates also had Zellweger syndrome and the other had Edward syndrome, which have never been reported before. Although there are number of miscellaneous cutaneous (most common Mongolian spots) and musculoskeletal conditions present in our cohort of neonates, we need to identify their significance only after conducting a case–control study.
A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities
Published in Fetal and Pediatric Pathology, 2021
Shufang Huang, Yu Xia, Hong Ding, Yonghua Wang, Yueheng Wu, Shaoxian Chen, Jian Zhuang, Ping Li
In this case, the proband’s father possessed a novel balanced translocation: 46,X,t(Y;18)(q12;q11). One other study described a female neonate with 45,X,t(Y;18) (p11;p11), found by peripheral blood GTG-banded karyotype to be 45,X,t(Y;18)(p11;p11), whereas cultures of her gonadal tissue yielded 45,X,t(Y;18)(p11;p11)/46,XY,mos. The patient in question had congenital heart disease, intellectual disability and mild virilization [6]. A girl with 45, X, t(Y;18) (q11; p11)/45, XO was found to have bilateral gonadoblastomas, no ova or follicles, and poor growth [7]. In the general population, the frequency of Y-autosomal translocations is 1/2000 [8]. It has been assumed that males remain fertile when the breakpoint is located in the heterochromatic region of Yq12, whereas male infertility occurs when the breakpoint lies in the region of the azoospermia factor (AZF) locus at Yq11 [9,10]. We assert that different breakpoints of chromosome Y determine sex differences. This is a plausible explanation given the cases described above all involved females, whereas our case study involved a phenotypic male. The proband's father and the younger sibling did not demonstrate any phenotypic abnormalities, and there was no evidence of loss or gain of chromosomal material. However normal phenotypes can transfer unbalanced translocations to their offspring, causing either RSAs (recurrent spontaneous abortions) or other congenital abnormalities such as congenital heart disease. With this family, the proband inherited from his father an abnormal Y chromosome with demonstrated Yq deletion of regions (q12-qter) and an 18q duplication of regions (q11-qter). This case manifested as a severe clinical phenotype, one similar to Edwards syndrome. The proband suffered a very severe form of congenital heart disease, with growth disability and other abnormalities, culminating with its demise in less than 1 month.
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
Trisomy 18 (Edward Syndrome) and Trisomy 13 (Patau Syndrome) are also relatively frequently diagnosed in the context of fetal hydrops. Both are multisystem disorders with Edward syndrome characteristically recognized by the ultrasound demonstration of clenched hands and ‘rocker-bottom feet’. Midline defects are prominent in Patau syndrome with holoprosencephaly and cyclopia seen in addition to multisystem abnormalities. Fetal hydrops develops in 14% of fetuses with trisomy 18 and 3% of those with trisomy 13 [102].