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Need Expert Analysis Of NT Scan And Dual Marker Test

Posted on Thu, 10 Jan 2019

Question: Need expert analysis of NT Scan and dual marker test for 12 week 2 days pregnant wife.
Upon our gynecologist advice, we underwent NT scan and dual marker test for my wife. I am scheduled for next appointment in first week of XXXXXXX with her. I have received the reports for the above test. Would like to seek additional opinion on the reports. Internet is giving me all different ranges for low//moderate/high risks for down's syndrome. What is the extent of risk in our case. A valuable input would educate us and enable a more educated discussion with our gynec in XXXXXXX wk1.
Report details are below:

First Trimester Ultrasound
Gestational age: 12 weeks+ 2 days from CRL
Fetal heart activity visualised
FHR 152 bpm
Crown-rump length (CRL) 58.0 mm
Nuchal translucency (NT) 3.00 mm
Chromosomal markers:
Nasal bone: present.
Maternal Serum Biochemistry
Sample Ll0000, taken on: 21 December 2018, analysed on: 21 December 2018. Equipment: Roche.
Free B-hCG -- 16.17 IU/I equivalent to 0.530 MoM
PAPP-A - 1.007 IU/I equivalent to 0.394 MoM
Uterine artery mean Pl: 2.390 equivalent to 1.488 MoM
Mean Arterial Pressure: 77.834 mmHg equivalent to 0.882 MoM

Condition Background risk Adjusted risk

Trisomy 21 1: 782 1: 287
Trisomy 18 1: 9232 1: 2969
Trisomy 13 <1:20000 1: 2883

Preeclampsia before 34 weeks 1: 126
Preeclampsia before 37 weeks 1: 42
Preeclampsia before 42 weeks 1: 12
Fetal growth restriction before 37 weeks 1:40
INTERPRETATION: The first trimester screening for the given sample is found SCREEN NEGATIVE for Aneuploidies. Please Note: The above interpretation is based on a cut off of 1:250 for T21 , 1:100 for T13 & T18.

Answered by Dr. Soumya (1 hour later)

Brief Answer:
Normal Report

Detailed Answer:
Hi,

I understand your concerns and seen your reports.

The report you have attached is for NT scan along with the markers for aneuploidy.

Reports seem to be absolutely fine and there seems to be no risk for any commonly occuring abnormalities like Down's syndrome, Trisomy 13 or 21.

There is nothing to worry as everything is normal.

Let me know if you need anymore help.

Regards

Above answer was peer-reviewed by : Dr. Vaishalee Punj

Follow up: Dr. Soumya (47 minutes later)

Thank you Dr. XXXXXXX for your assessment. In the report, the lab has made below suggestions. Do we have to proceed with any further examination? Based on your assessment, it doesn't appear to be the case. Kindly advice.

SUGGESTION:

"In view of equivocal or intermediate risk i.e. Risk> 1:1500, further testing through the following options should be considered:

a)Detailed anomaly scan and Genetic Sonogram to assess for markers and defects for chromosomal abnormalities.

b)Non- Invasive prenatal Testing/ Screening (NIPT) (Detection rate: >99%), ref: ISPD guidelines
2015. c)Definitive testing through Fetal Karyotyping.

Kindly advice.

Regards,
Sankalp

Answered by Dr. Soumya (2 hours later)

Brief Answer:
No further tests are required

Detailed Answer:
Hi,

Combined risk assessment with aneuploidy markers is low.

I dont think there is further need of testing with NIPT or Fetal Karyotyping. I dont think your baby is at risk. No further tests are warranted.

Regards

Above answer was peer-reviewed by : Dr. Nagamani Ng