Recurrent Cystic Hygroma with Normal Karyotype in Two Consecutive Pregnancies

We herein describe a woman with two consecutive pregnancies affected by fetal nuchal cystic hygroma (CH) with a normal karyotype. A 33-year-old woman (gravidity 2, parity 1) was referred to us because of fetal hydrops. No consanguinity or Rh isoimmunization was involved in her current or previous pregnancy. First-trimester ultrasonography revealed nuchal CH, and chorion villus sampling was performed to exclude aneuploidy. In the first pregnancy, the CH had regressed and aortic coarctation was detected by second-trimester fetal echocardiography. In the current pregnancy, the CH had progressed and was complicated by the development of nonimmune hydrops. Termination of the pregnancy was performed at 21 weeks’ gestation. Recurrence of fetal CH in subsequent pregnancies is extremely rare. CH with a normal karyotype can be inherited as an autosomal recessive trait. This report describes a woman with recurrent CH with normal karyotypes and different prognoses

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A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester

Case Reports in Obstetrics and Gynecology ◽

10.1155/2016/1821230 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4

Author(s):

Giannina Calongos ◽

Masateru Hori ◽

Mai Ogino ◽

Hideaki Sawai

Keyword(s):

Normal Karyotype ◽

First Trimester ◽

Type I ◽

Long Bones ◽

Thanatophoric Dysplasia ◽

Fetal Hydrops ◽

Cervical Dilation ◽

Skeletal Disease ◽

Skeletal Radiography ◽

Strong Suspicion

During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal hydrops at 11 weeks of gestation. The pregnancy was monitored with periodic ultrasounds; however, spontaneous resolution was not observed. Amniotic fluid examination at 16 weeks of gestation showed a normal karyotype; however, macrocephaly, a narrow thorax, and shortening of the long bones were observed on ultrasonography. With the strong suspicion of a fetal skeletal disease, specifically thanatophoric dysplasia (TD), and after extensive genetic counseling, termination of the pregnancy was performed per the parents’ wishes with mechanical cervical dilation and gemeprost (PGE1) administration. Following delivery, the fetus was found to have macrocephaly, a narrow bell-shaped thorax, and a protuberant abdomen, as well as curved long bones, H-shaped platyspondyly, and curved clavicles on skeletal radiography. As a result, the fetus was diagnosed with TD type I. This case illustrates that although TD is a rare disease, an accurate prenatal diagnosis can be made with the use of ultrasonography.

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Cloacal dysgenesis sequence in the first trimester of gestation

10.21516/2413-1458-2019-18-3-210-217 ◽

2019 ◽

Author(s):

I.V. Novikova

Keyword(s):

Cytogenetic Analysis ◽

Normal Karyotype ◽

First Trimester ◽

Vacterl Association ◽

Autopsy Data ◽

Multiple Malformation ◽

Chorion Villus ◽

Post Abortion ◽

Malformation Complex ◽

Cloacal Dysgenesis

The autopsy data in 17 first trimester fetuses with cloacal dysgenesis sequence are presented. The prenatal ultrasound showed dilated bladder. Cytogenetic analysis of 16 cases carried out by chorion villus sampling or obtained from post-abortion tissues demonstrated normal karyotype. The complete autopsy revealed cystic dilated cloaca, smooth perineum, absence of anal opening and a phallus-like structure. There were 12 cases with isolated cloacal dysgenesis sequence and 5 cases with multiple malformations. In the latter group cloacal dysgenesis were associated with VACTERL association and non-classified multiple malformation complex.

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How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.1080/14767058.2016.1191463 ◽

2016 ◽

Vol 30 (8) ◽

pp. 938-941 ◽

Cited By ~ 2

Author(s):

Alper Gezdirici ◽

Ali Ekiz ◽

Elif Yılmaz Güleç ◽

Başak Kaya ◽

Salim Sezer ◽

...

Keyword(s):

Normal Karyotype ◽

First Trimester ◽

Cystic Hygroma ◽

Ptpn11 Gene

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Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Journal of Veterinary Diagnostic Investigation ◽

10.1177/10406387211007526 ◽

2021 ◽

pp. 104063872110075

Author(s):

Tuddow Thaiwong ◽

Sarah Corner ◽

Stacey La Forge ◽

Matti Kiupel

Keyword(s):

Hair Loss ◽

Autosomal Recessive ◽

Early Death ◽

Deletion Mutation ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

German Shepherd ◽

Hair Coat ◽

Pituitary Dwarfism ◽

Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

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Prenatal sonographic diagnosis of Cantrell's pentalogy with cystic hygroma in the first trimester

Journal of Clinical Ultrasound ◽

10.1002/(sici)1097-0096(199810)26:8<409::aid-jcu7>3.0.co;2-m ◽

1998 ◽

Vol 26 (8) ◽

pp. 409-412 ◽

Cited By ~ 21

Author(s):

Yao-Yuan Hsieh ◽

Chien-Chung Lee ◽

Chi-Chen Chang ◽

Horng-Der Tsai ◽

Tai-Yen Hsu ◽

...

Keyword(s):

First Trimester ◽

Cystic Hygroma ◽

Sonographic Diagnosis ◽

Cantrell's Pentalogy

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Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family

Clinical Science ◽

10.1042/cs0740231 ◽

1988 ◽

Vol 74 (3) ◽

pp. 231-236 ◽

Cited By ~ 35

Author(s):

Makram Al-Waiz ◽

Riad Ayesh ◽

Stephen C. Mitchell ◽

Jeffrey R. Idle ◽

Robert L. Smith

Keyword(s):

Oral Administration ◽

Inborn Error ◽

Autosomal Recessive ◽

Oral Challenge ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Challenge Dose ◽

The Third ◽

The Family ◽

Body Odour

1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ‘fish-odour’ symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.

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