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

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.

Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester

2005 ◽  
Vol 25 (5) ◽  
pp. 426-428 ◽  
Author(s):  
Pierangela De Biasio ◽  
Irina Bruzzone Ichim ◽  
Eloisa Scarso ◽  
Maurizia Baldi ◽  
Anwar Barban ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Increased Nuchal Translucency

scholarly journals Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report

2021 ◽  
Vol 10 (3) ◽  
pp. 1232
Author(s):  
Priti Agrawal ◽  
Rishi Agrawal ◽  
Anandi Lobo
Keyword(s):  
Nasal Bone ◽  
Rare Event ◽  
Breech Presentation ◽  
Radiographic Examination ◽  
Type I ◽  
Long Bones ◽  
X Rays ◽  
Second Trimester ◽  
Thanatophoric Dysplasia ◽  
Cardiothoracic Ratio

Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”. Children with this condition are usually stillborn or die shortly after birth from respiratory failure. We report a case of LSD (Thanatophoric dysplasia), in an unbooked patient where previous two children and couple were absolutely normal.  Our patient, 31 years old, unbooked case presented with history of amenorrhea 8 months and unable to perceive fetal movements. Her husband’s age was 33 years. This was her third pregnancy. She had previous 2 deliveries by LSCS. Ultrasonography revealed single intrauterine live fetus in breech presentation with multiple fetal anomalies. There was shortening and deformity of all four limbs (micromelia) with poor mineralization of all bones. Thorax was pear shaped with short horizontal ribs and abnormal cardiothoracic ratio. LSCS was done in emergency for impending rupture of previous LSCS scar. Post-delivery examination and X-ray of the fetus revealed decreased skull mineralization, frontal bossing, hypoplastic nasal bone, midface hypoplasia, mandibular hypoplasia, pear shaped chest, protuberant abdomen, micromelia, dumbbell shaped appearance of all long bones. TD is caused due to mutation of the fibroblast growth factor receptor 3 gene (FGFR3), which is located on the short arm of chromosome 4. Type I TD is characterized by marked underdeveloped skeleton and short-curved long bones. Conventional radiographic examination remains the most useful means of studying the dysplastic skeleton. Bony evaluation is best done on X-rays or ultrasonography. The diagnosis of TD can be established with ultrasound and molecular confirmation in the second trimester can help in genetic counselling and termination of such lethal pregnancies. LSD’s are rare event. If our patient had undergone anomaly scan in second trimester of pregnancy, this defect could have been detected earlier. The outcome of fetus is lethal but maternal morbidity can be reduced if diagnosed early.

Stippling: a first trimester marker for thanatophoric dysplasia type I

2010 ◽  
Vol 30 (12-13) ◽  
pp. 1220-1221 ◽  
Author(s):  
Lauren Beuke ◽  
Priyadarshini Koduri ◽  
Francis Martinez ◽  
Stuart Weiner
Keyword(s):  
First Trimester ◽  
Type I ◽  
Thanatophoric Dysplasia

scholarly journals Recurrent Cystic Hygroma with Normal Karyotype in Two Consecutive Pregnancies

2016 ◽  
Author(s):  
Nil Şahin Uysal ◽  
Çağrı Gülümser ◽  
Filiz Bilgin Yanık
Keyword(s):  
Autosomal Recessive ◽  
Fetal Echocardiography ◽  
Normal Karyotype ◽  
First Trimester ◽  
Cystic Hygroma ◽  
Recessive Trait ◽  
Fetal Hydrops ◽  
Previous Pregnancy ◽  
Chorion Villus ◽  
Nonimmune Hydrops

<p>We herein describe a woman with two consecutive pregnancies affected by fetal nuchal cystic hygroma (CH) with a normal karyotype.<br />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.<br />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.<br />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</p>

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Generalized Bone Changes and Thrombocytopenic Purpura in Association with Intrauterine Rubella

PEDIATRICS ◽  
1965 ◽  
Vol 36 (2) ◽  
pp. 264-268
Author(s):  
AARON R. RAUSEN ◽  
ROBERT D. LONDON ◽  
ABRAHAM MIZRAHI ◽  
LOUIS Z. COOPER
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Rubella Virus ◽  
Congenital Heart ◽  
Newborn Infants ◽  
First Trimester ◽  
Long Bones ◽  
Thrombocytopenic Purpura ◽  
Bone Changes ◽  
First Trimester Of Pregnancy

Two newborn infants are presented whose mothers had rubella in the first trimester of pregnancy. Both infants were born with thrombocytopenic purpura and suggestive evidence of a hemolytic disorder. The second infant had congenital heart disease as well. Roentgenographic changes in the metaphyseal ends of several long bones, observed in the first infant at 3 days of age, regressed completely by 2 months of age. The second infant had roentgenographic evidence of metaphyseal changes of a lesser degree, limited to the distal ends of the femora. These changes were no longer present at 6 weeks of age. Both infants were shown to be harboring an interfering agent with the characteristics of the rubella virus.

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