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Dr. Andrew Rynne

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Pregnant. Ultrasound showed foetus with dilated pelvis and anterior segment anomaly. Had caesarian and miscarriage. Suggest?

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Dr. Aarti Abraham

OBGYN

Practicing since :1998

Answered : 6003 Questions

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Posted on Tue, 21 May 2013 in Women's Health
Question: Name : XXXXXXX
Age : 37 yrs
History
1st Child - on 23 XXXXXXX 2001, Caegerian due to placenta previa and no labur pain
2nd - 6-8 week Missed abortion in 2009 due to no foetal development
Present Case
Pregnant for 3rd time.
LMP – 20 Dec 12
At 18 week of pregnancy while undergoing ultrasound, the doctor told me that the foetus has flowing two problems:-
(a)     Lt kidney :- Dilated pelvis and ureter is tortous
(b)     D 11 Vertebra :- anterior segmental anomaly, likely hemi vertebra
Request advise on:-
(a)     Suggested course of treatment
(b)     Problems to the baby likely to be faced if born with aforesaid deformaties
Thanking you,
Yours sincerely,
XXXXXXX XXXXXX
doctor
Answered by Dr. Aarti Abraham 24 minutes later
Hello XXXXXXX
Thanks for your query.

Hemivertebra is an uncommon congenital anomaly of the spine in which only one half of the vertebral body develops. The incidence of hemivertebra is estimated at 5‑ 10:10,000 births .

Hemivertebrae may be isolated or may occur in multiple areas within the spine and is frequently associated with other congenital anomalies. Hemivertebra is commonly associated with other musculoskeletal anomalies including those of the spine, ribs, and limbs. Cardiac and genitourinary tract anomalies are the more common extra‑musculoskeletal anomalies seen with hemivertebra, with anomalies of the central nervous system and gastrointestinal tract also being reported. Hemivertebra may be part of a syndrome including Jarcho‑Levin, Klippel‑Fiel, and VACTERL. The incidence of karyotypic abnormalities in fetuses with isolated vertebral anomalies is thought to be small.

The prognosis is directly related to the presence or absence of associated anomalies. The prognosis of isolated hemivertebra is good. Left untreated, 25% of patients with congenital scoliosis show no progression, 50% progress slowly, and 25% progress rapidly during growth. Spinal fusion is the treatment of choice for cases of congenital scoliosis. The treatment of congenital scoliosis should occur before significant deformity occurs.

When the prenatal diagnosis of hemivertebrae is made, a meticulous search for associated anomalies should be performed. Chromosomal analysis can be offered, especially in the presence of associated anomalies. Amniotic fluid alpha‑fetoprotein concentration can be assessed if there is a question of an open neural tube defect and the patient is of appropriate gestational age. Serial ultrasonic evaluation is recommended to follow fetal growth and evaluate for signs of an open neural tube defect that may not be present at an initial early ultrasound.

If there are no other complicating factors, standard management of labor and delivery is recommended. A careful neonatal assessment for associated cardiac and genitourinary anomalies needs to be performed and the infant should receive long term orthopedic follow‑up so treatment can occur, if necessary, prior to the development of serious deformity.

Regarding dilated renal pelvis, if it is non progressive, it can be surgically treated after birth.

Presence of 2 anomalies raises the risk of some chromosomal abnormality in the baby.
I would ask you to go for the quadruple marker test and also for amniocentesis, particularly at your advanced maternal age.

Please consult a Genetic Counsellor at the earliest for the needful.
Take care, and feel free to discuss further.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Aarti Abraham 10 minutes later
Double marker test done after 12 week - Result negative.

Other organs in ultra sound normal. No other abnormality dtected till now. Patient being treated by doctors from AFMC (Pune)
doctor
Answered by Dr. Aarti Abraham 45 minutes later
Please go for quadruple marker and amniocentesis as advised.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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