Chromosomal Abnormality

Chromosomal abnormalities can occur during any stage of fetal development or exposure of a fetus to teratogens. The chromosomal abnormalities can be in the form of a deficient or an excess number of chromosomes, an inadequate amount of DNA within chromosomes, and structurally deranged chromosomes. Down syndrome, Turner syndrome, and trisomy 18 are some conditions presenting with chromosomal abnormalities. There is no treatment for chromosomal abnormality.

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Kindly advice about the ventricular echogenic focus seen in pregnancy scan.

Query: Hi doctor, My sister got her 22-week pregnancy scan, and a small left ventricular echogenic focus was noted. Please advice.  Read Full »

Dr. Muhammad M. Hanif Md.

Cardiologist, Criticalcare Physician, General Medicine Physician, Internal Medicine Physician

Answer: Hi, Welcome to I have gone through the attachment (attachment removed to protect patient identity). Let me tell you what is an echogenic focus is. It may be a calcium deposit, and it is commonly seen in the left ventricle of the heart in the prenatal second and third pregnancy ultraso...  Read Full »

Karyotype of the abortus shows triplody. Will it affect baby's physical and mental health?

Query: Hello doctor, I am 38 years old and my wife is 36 years old. We are married for the last two years and trying for a baby for the last one year almost. By our gynecologist advise we underwent an IUI cycle which resulted in missed abortion at seven weeks due to no growth of fetus after five weeks. ...  Read Full »

Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

Answer: Hello, Welcome to 1. As far as the subserous nature of the fibroid is concerned which is around 7cm x 6 cm, it per se is not going to have an effect or cause hindrance in conception but it is likely that it can cause problems during the pregnancy and in the late third trimester due t...  Read Full »

Do my double marker test results show any complication?

Query: Hi doctor, I am 13 weeks pregnant. I got a double marker test:hCG free beta-62.50ng/mL.PAPP-A - 7.17mlU/mLTrisomy 21-1:250Trisomy 18/13 -1:100NT-1.00 mmNT MoM's -0.63MoMCRL -61.8mm Is there any complication?  Read Full »

Dr. Sravanthi Nuthalapati

Obstetrician And Gynaecologist

Answer: Hello, Welcome to I have gone through your attached dual screen report and it shows low risk for all the chromosomal abnormality which is absolutely normal. It should be kept in mind that this is a screening test which calculates the risk of carrying a baby with chromosomal abnormali...  Read Full »

What does my double marker blood test indicate?

Query: Hi doctor, I am 12 weeks 5 days pregnant. I got my NT scan and double marker blood test results. NT value 1.1 mm, free b-hCG 1.52 MOM, PAPP-A 0.37 MOM, trisomy 21+NT risk 1:1132, trisomy 21 1:169, trisomy 13/18+NT. In urine culture, there is no significant growth observed after 48 hours. I am curre...  Read Full »

Dr. Jimesh H Mavani

General Practitioner, Obstetrician And Gynaecologist

Answer: Hello, Welcome to I have seen the report completely (attachment removed to protect patient identity). Your report is normal and there is no need to worry. If you want a detailed explanation about the report, then here you go. There are some genetic syndromes, which are happening worl...  Read Full »

CPAM type 3 lesion with ratio 0.6. Will it cause any problem to the baby?

Query: Hello doctor, CPAM type 3 lesions, but ratio is 0.6. Will it cause a serious problem after birth for my baby?  Read Full »

Dr. Richa Agarwal

Obstetrician And Gynaecologist

Answer: Hi, Welcome to I have gone through your history and understand your concern. As there is no chromosomal abnormalities in your baby, there is most likely no problem in future but continuous monitoring is important in your case.  Read Full »

After a miscarriage, what are the precautions to be taken during next pregnancy?

Query: Hello doctor, I am 8 weeks pregnant, and I found some blood spot with blood clots coming out while urinating. I consulted the doctor and underwent an ultrasound scan with the following observation. Number of fetuses - 1, Viability - Live, Fetal Cardiac Pulsation - Seen, Fetal Heart rate - 160 bpm. ...  Read Full »

Dr. Avijit Basak

Obstetrician And Gynaecologist

Answer: Hello, Welcome to I have gone through your reports and understand your concerns (attachment removed to protect patient identity). You should take all the drugs as your doctor has advised along with tablet Folvite 5 mg (Folic acid) once daily for better prognosis. There is some kind o...  Read Full »

My sister's report shows 46, XY chromosome. What does this mean?

Query: Hi doctor, My sister is 18 years old, and she has never had periods. Recently, we did a test which said, 46, XY (20), 20 cells were counted, all cells showed 46 chromosomes. Small chromosomal anomalies and small clonal population may not be detected using the standard methods employed.¬†Could you pl...  Read Full »

Dr. R Balakrishnan Menon

Infertility Specialist, Obstetrician And Gynaecologist

Answer: Hi, Welcome to How are you doing? This is a tough condition to explain, but let me try. 46 chromosomes mean the total number of chromosomes is normal. For a normal female, the sex chromosome should be "XX". "XY" means male. So, your sibling who is looking as or phenotypically female ...  Read Full »

What is the use of quadruple marker test?

Query: Hello doctor, My wife is 18 weeks pregnant with twin gestations. She has conceived through IUI treatment. We want an urgent and detailed feedback regarding her quadruple marker report. How authentic are the report findings, considering there are no other marker tests done before, like double marker...  Read Full »

Dr. Deepti Verma

Fetal Medicine Specialist, Obstetrician And Gynaecologist

Answer: Hi, Welcome to I have gone through your question and understand your concerns. I have reviewed the quadruple marker report (attachment removed to protect patient identity). First of all, any serum screening like double or quadruple marker does not accurately assess the risk of chromosom...  Read Full »

I have chromosome aberration. Will IUI with donor sperm be the ideal treatment?

Query: Dear doctor, I am 36 years old and my wife is 29 years of age. We were married four years back. Wife had three abortions in the first, second and third year of marriage. Now, we have undergone detailed treatment and understood that I have a chromosome aberration. The result shown in the report is 4...  Read Full »

Dr. R Balakrishnan Menon

Infertility Specialist, Obstetrician And Gynaecologist

Answer: Hi, Welcome to I can think of two options for your difficulty: Most of the hospitals have a supply of frozen sperms from local or major cities. There, they will have semen from screened donors whose blood group, complexion, build and eye color are matched with yours. Few hospitals,...  Read Full »

Fetal ultrasound failed to detect heartbeat. Has the child been aborted?

Query: Hello doctor, My wife's last period date was two months ago. After one month, we came to know through blood tests that she is pregnant. She had her first ultrasound 10 days ago and the baby is fine at five weeks and five days with a heartbeat of 114. But for the last three to four days, she saw som...  Read Full »

Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

Answer: Hello, Welcome to If a repeat ultrasound shows no heartbeat then she has experienced a missed abortion. This means that after the arrival of the heartbeat, the heart has stopped and the fetus is no more alive and not growing. The bleeding is nature's way of aborting the non-developi...  Read Full »

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