scholarly journals A novel nonsense variant in MED12 associated with malformations in a female fetus

2021 ◽  
Vol 9 (12) ◽  
Author(s):  
Soren Lejsted Faergeman ◽  
Naja Becher ◽  
Lotte Andreasen ◽  
Marianne Christiansen ◽  
Lise Frost ◽  
...  
Keyword(s):  
Female Fetus

Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21‐hydroxylase deficiency

1990 ◽  
Vol 156 (2) ◽  
pp. 132-135 ◽  
Author(s):  
Eric A Haan ◽  
James L Penfold ◽  
Robert I Richards ◽  
Susan W Serjeantson ◽  
A Kenneth Rollond ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hydroxylase Deficiency ◽  
Female Fetus ◽  
21 Hydroxylase Deficiency ◽  
Intrauterine Treatment

scholarly journals Recent sex ratio at birth in China

2021 ◽  
Vol 6 (5) ◽  
pp. e005438
Author(s):  
Quanbao Jiang ◽  
Cuiling Zhang
Keyword(s):  
Sex Ratio ◽  
Normal Level ◽  
Decomposition Methods ◽  
Sex Ratio At Birth ◽  
Negative Effects ◽  
Female Fetus ◽  
The Past ◽  
Multiple Data ◽  
Child Policy ◽  
Second Births

BackgroundChina’s sex ratio at birth (SRB) has declined in the past decade but still exceeds the normal level. This study seeks to depict the SRB trend in the past two decades.MethodsWe depicted the SRB trend, including SRB by birth order, children composition, residence and hukou type, education, race and province using latest data available from multiple data sources and standardisation and decomposition methods.ResultsThe SRB remained around 120 in the first decade from 2000 to 2010, and recently declined and approached the normal level during 2010–2020. The SRB for second births and first births converged to the normal level, whereas the SRB for third and above births exceeded the normal level. The rising proportion of second births increased, whereas the decreasing proportion of first births reduced the overall SRB. Parents with only daughters are more likely to abort a female fetus in pursuit of a son, while parents with only sons are more likely to abort a male fetus in pursuit of a daughter. It also shows difference in SRB by residence, hukou type, educational attainment and race. Urban SRB was lower than rural SRB, by the residence and hukou type, but higher than rural SRB after being standardised. Provinces still exhibit differences by original categorised policy even after the implementation of the universal two-child policy.ConclusionsChina’s SRB has declined substantially during the past two decades, but the negative effects need to be tackled.

Luteoma of pregnancy: masculinisation of a female fetus prevented by placental aromatisation

1992 ◽  
Vol 99 (12) ◽  
pp. 1019-1020 ◽  
Author(s):  
P. J. ILLINGWORTH ◽  
F. D. JOHNSTONE ◽  
J. STEEL ◽  
J. SETH
Keyword(s):  
Female Fetus

Placental mesenchymal dysplasia- A case report

2021 ◽  
Vol 6 (3) ◽  
pp. 249-252
Author(s):  
Zeba Nisar ◽  
Mahendra A Patil ◽  
Vaishali J Pol ◽  
Jaydeep N Pol
Keyword(s):  
Case Report ◽  
Histopathological Examination ◽  
Clinical Suspicion ◽  
Termination Of Pregnancy ◽  
Rare Disorder ◽  
Molar Pregnancy ◽  
Female Fetus ◽  
Beta Hcg ◽  
Antenatal Visits ◽  
Placental Mesenchymal Dysplasia

Placental mesenchymal dysplasia is a rare disorder mainly characterized by enlarged placenta. Patients on antenatal visits present with normal or slightly raised Beta-HCG, raised Alfa-fetoprotein and cystic structures on USG resembling a molar pregnancy. It has to be differentiated from molar pregnancies to avoid unnecessary termination of pregnancy. This condition is associated with IUGR or IUFD. Mostly the fetus are females. Due to lack of awareness of this condition it remains underreported. Here we present a case report of 20 years old female 37 week pregnant with IUGR with clinical suspicion of molar pregnancy gave birth to alive female fetus and on histopathological examination of placenta was diagnosed with PMD.

FOLLICLE STIMULATING HORMONE (FSH) AND LUTEINIZING HORMONE-HUMAN CHORIONIC GONADOTROPIN (LH-HCG) CONCENTRATIONS IN PAIRED MATERNAL AND CORD SERA

PEDIATRICS ◽  
1974 ◽  
Vol 53 (1) ◽  
pp. 41-47
Author(s):  
Robert Penny ◽  
N. Olatunji Olambiwonnu ◽  
S. Douglas Frasier
Keyword(s):  
Luteinizing Hormone ◽  
Chorionic Gonadotropin ◽  
Follicle Stimulating Hormone ◽  
Poor Correlation ◽  
Male Fetus ◽  
Gonadotropin Secretion ◽  
Female Fetus ◽  
Cord Serum ◽  
Serum Gonadotropin ◽  
Radio Immunoassay

FSH and LH-HCG concentrations were determined by radio-immunoassay in paired maternal and cord sera. The sera of 50 mothers and 51 infants, 25 female and 26 male (one set of twins), were assayed. Mean (± SD) FSH concentration of mothers (3.4 ± 0.9 mIU/ml) giving birth to female infants was not different, p>0.1, from that of mothers (3.7 ± 0.7 mIU/ml) giving birth to male infants. In contrast, mean (± SD) LH-HCG concentration of mothers (15.99 ± 3.1 IU/ml) giving birth to female infants was significantly, p<0.005, greater than that of mothers (11.37 ± 5.0 IU/ml) giving birth to male infants. Cord serum FSH mean (± SD) concentration was significantly, p<0.005, greater in female infants (3.7 ± 0.5 mIU/ml) than male infants (2.4 ± 0.8 mIU/ml). However, mean (± SD) LH-HCG concentrations in female infants (0.122 ± 0.015 IU/ml) was significantly, p<0.005, less than that of male infants (0.156 ± 0.040 IU/ml). Poor correlation, on an individual basis and on a statistical basis, between maternal and cord serum FSH and LH-HCG concentrations was observed. The data of this investigation are consistent with fetal pituitary gonadotropin secretion, confirm previous observations that women bearing a female fetus have higher LH-HCG concentrations than those bearing a male fetus, and suggest a sex difference in cord serum gonadotropin concentrations.

scholarly journals Sex determination using circulating cell-free fetal DNA in small volume of maternal plasma in elephants

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Boglárka Vincze ◽  
András Gáspárdy ◽  
Alexandra Biácsi ◽  
Endre Ákos Papp ◽  
László Garamvölgyi ◽  
...  
Keyword(s):  
Sex Determination ◽  
Small Volume ◽  
Fundamental Principle ◽  
Maternal Plasma ◽  
Chromosomal Marker ◽  
Genetic Sexing ◽  
Female Fetus ◽  
Cell Free Fetal Dna ◽  
In Captivity ◽  
Increased Sensitivity

Abstract The genetic sexing of animals having long gestation periods offers significant benefits in regard to breeding management among their populations living in captivity. In our study, a new increased-sensitivity PCR method for fetal sexing was developed and tested successfully on elephants, from only a small volume of maternal plasma. Suitable sensitivity was obtained by using short, reduced amplicon lengths with fluorescent labelling for capillary electrophoresis detection. The fundamental principle for this technique was based on the detection of two Y-specific markers (AmelY and SRY), the presence of which indicates the mother is carrying a male fetus and the absence of these markers designates a female fetus. As a reaction control, the X-chromosomal marker (PlpX) was used. To the best of our knowledge, this is the first report on this topic, confirming the presence of fetal cell-free DNA from the plasma of a pregnant captive elephant, and demonstrating a new opportunity for non-invasive assessment in fetal sex determination.

scholarly journals Steno-Fallots tetralogi og Bartholin-Pataus syndrom. En hjertemisdannelse og et misdannelsessyndrom første gang beskrevet af danske anatomer i 1600-tallet

2015 ◽  
Vol 54 ◽  
pp. 197
Author(s):  
Jesper Brandt Andersen ◽  
Niels W. Bruun
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Trisomy 13 ◽  
Latin Text ◽  
Female Fetus ◽  
Left Hand ◽  
Anatomy And Physiology ◽  
Patau Syndrome ◽  
Heart Malformation ◽  
The Right

Jesper Brandt Andersen & Niels W. Bruun: Tetralogy of Steno-Fallot and Bartholin-Patau syndrome. A heart malformation and a malformation syndrome first described by Danish anatomists in the seventeenth century. The heart malformation tetralogy of Steno-Fallot was first described by the Danish anatomist Niels Stensen (Nicolaus Steno) (1638–1686) in Thomas Bartholin’s Acta Medica & Philosophica Ann. 1671 & 1672 in 1673, but this was not discovered until 1942. Stensen’s description was built upon a dissection of a female fetus, which he made during his stay in Paris 1664–1665. We bring the first full Danish translation of Stensen’s Latin text and an analysis of his description in relation to his contemporaries and the present. Stensen describes three of the four elements of the tetralogy described in three adult patients by Fallot in 1888, namely ventricular septal defect, pulmonic stenosis and dexteriority of the aorta. The fact that Stensen does not mention the hypertrophy of the right ventricle may have two good reasons. Firstly, the difference between the wall thickness of the right and left ventricles is generally less pronounced in a fetus than after the birth and this would be expected even more in a heart malformation with overload on the right ventricle.Secondly, Stensen may have considered the right sided hypertrophy as merely a result of the three other elements of the tetralogy than as a malformation in itself.Stensen’s description reveals an impressive knowledge about the circulation of the blood in the heart of a fetus, and we speculate that he may have been the first in history to deliver such a precise description, not only of the anatomy and physiology of the tetralogy of Steno-Fallot, but also of the anatomy and physiology of the blood circulation in the fetal heart. Stensen’s fetus had several other malformations, i.e. cleft lip and palate, schisis of the abdomen and thorax and syndactyly of the second to fifth fingers on the left hand. We suggest that the fetus may have had acrofacial dysostosis 1 (Nager syndrome), which is caused by a mutation on chromosome 1q21.2.Likewise, Stensen’s mentor, the Danish anatomist Thomas Bartholin (1616–1680), was the first to describe a case report of the Bartholin-Patau syndrome in his Historiarum anatomicarum rariorum Centuria III & IV in 1657, but this was not discovered until 1960, the same year as Patau and collaborators showed that this syndrome is caused by trisomy 13. We bring the first full Danish translation of Bartholin’s Latin text with an analysis in relation to his age and the present.

Pathologic Quiz Case: A 27-Week Female Fetus With Massive Macrocephaly and Generalized Anasarca

2004 ◽  
Vol 128 (1) ◽  
pp. 102-104
Author(s):  
Baishali Bhattacharya ◽  
Elizabeth Cochran ◽  
Jerome Loew
Keyword(s):  
Female Fetus
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